Abbreviations Used in The Medical Biochemistry Page


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1—10

2-AG 2-arachidonoylglycerol, an endocannabinoid
2,3BPG 2,3-bisphosphoglycerate
4EBP1 translation factor eIF-4E binding protein
5HT 5-hydroxytryptamine, serotonin

A

AADC aromatic L-amino acid decarboxylase
ABC ATP-binding cassette family of proteins
ABCA1 gene symbol for ATP-binding cassette transporter A1
ABCB4 gene symbol for ATP-binding cassette member B4; also called multidrug resistance protein 3, MDR3
ABCB11 gene symbol for ATP-binding cassette member B11; also called bile salt export pump, BSEP
ABCC2 gene symbol for ATP-binding cassette, sub-family C, member 2; also called canalicular multispecific organic anion transporter gene, CMOAT or multidrug resistance-associated protein 2 gene, MRP2
ABCC8 gene symbol for ATP-binding cassette, sub-family C, member 8; also called SUR = sulfonylurea receptor, is a component of the K+-ATP channel involved in insulin secretion from pancreas
ABCD1 gene symbol for ATP-binding cassette, subfamily D, member 1
ABHD5 α/β-hydrolase domain-containing protein-5; also known as comparative gene identification-58, CGI-58
ABP androgen binding protein
ACAA1 gene symbol for acetyl-CoA C-acyltransferase 1
ACAA2 gene symbol for acetyl-CoA C-acyltransferase 2
ACADM gene symbol for acyl-CoA dehydrogenase, medium-chain; protein is also known as medium-chain acyl-CoA dehydrogenase, MCAD
ACAT1 originally identified as acyl-CoA: cholesterol acyltransferase 1; correct nomenclature for this enzyme sterol O-acyltransferase 1, SOAT1
ACAT2 originally identified as acyl-CoA: cholesterol acyltransferase 2; correct nomenclature for this enzyme sterol O-acyltransferase 2, SOAT2
ACAT1 acetyl-CoA acetyltransferase 1; acetoacetyl-CoA thiolase, mitochondrial; involved in ketone body synthesis
ACAT2 acetyl-CoA acetyltransferase 2; acetoacetyl-CoA thiolase, cytoplasmic; involved in cholesterol biosynthesis
ACC1 acetyl-CoA carboxylase, strictly cytosolic, enriched in liver
ACC2 acetyl-CoA carboxylase, expressed in heart, liver, skeletal muscle, mitochondrial targeting motif, found associated with CPT I
ACE angiotensin converting enzyme
ACH achondroplasia, caused by defects in FGFR3
ACh acetylcholine
AChR acetylcholine receptor
ACOX1, 2, 3 peroxisomal fatty acyl-CoA oxidase 1, 2, and 3
ACP acyl-carrier protein
ACTH adrenocorticotropic hormone
ACS acyl-CoA synthetase
ADA adenosine deaminase
ADBP adenosine deaminase binding protein
ADD1 adipocyte differentiation 1; also called SREBP-1c
ADH antidiuretic hormone
ADH alcohol dehydrogenase; 7 ADH genes in humans, several exist in different polymorphic forms
AdoMet S-adenosylmethionine
ADP ALA dehydratase deficient porphyria
AEA N-arachidonoylethanolamine, commonly called anandamide; is an endocannabinoid
AGA gene symbol for N-aspartyl-β-glucosaminidase
AGL gene symbol for amylo-1,6-glucosidase; also called glycogen debranching enzyme, GDE
AgRP agouti-related peptide, hypothalamic neuropeptide that antagonizes the activities of α-MSH
AIP acute intermittent porphyria
AIS androgen insensitivity syndrome
Akt first identified as oncogene in AKT8 virus isolated from an AKR mouse spontaneous thymoma; there are 3 members of the Akt family, Akt1, Akt2, and Akt3 with Akt1 being the original virus isolate; Akt2 is important for insulin signaling and presentation of GLUT4 transporters; also called protein kinase B, PKB
ALA δ-aminolevulinic acid
ALAD gene symbol for ALA synthase
ALAS δ-aminolevulinic acid synthase; ALAS1 and ALAS2
ALD argininosuccinate lyase deficiency, a UCD
ALDH aldehyde dehydrogenase; involved in acetaldehyde metabolism, two types in humans: ALDH1A1 and ALDH2
ALT: SGPT alanine transaminase: serum glutamate pyruvate transaminase
ALG1 gene symbol for asparagine-linked glycosylation gene 1; also called mannosyltransferase I (GDP-Man: GlcNAc2-P-P-Dol β-1,4-mannosyltransferase)
ALG2 gene symbol for asparagine-linked glycosylation gene 2; also called mannosyltransferase II (GDP-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase)
ALG3 gene symbol for asparagine-linked glycosylation gene 3; also called mannosyltransferase VI (Dol-P-Man: Man5GlcNAc2-P-P-Dol mannosyltransferase)
ALG6 gene symbol for asparagine-linked glycosylation gene 6; also called glucosyltransferase I (Dol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase)
ALG8 gene symbol for asparagine-linked glycosylation gene 8; also called glucosyltransferase II (Dol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol α-3-glucosyltransferase)
ALG9 gene symbol for asparagine-linked glycosylation gene 9; also called mannosyltransferase VII-IX (Dol-P-Man: Man6- and Man8-GlcNAc2-P-P-Dol mannosyltransferase)
ALG12 gene symbol for asparagine-linked glycosylation gene 12; also called mannosyltransferase VIII (Dol-P-Man: Man7-GlcNAc2-P-P-Dol α-6-mannosyltransferase)
ALXR lipoxin receptor
AMPA ionotropic glutamate receptor subtype originally shown to be activated by 2-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
AMPK AMP-activated protein kinase
ANF atrial natriuretic factor; also called ANP for atrial natriuretic peptide
ANP atrial natriuretic peptide; also called ANF for atrial natriuretic factor
APC activated protein C
APC adenomatous polyposis coli gene, kinase that phosphorylates β-catenin
APC anaphase promoting complex
AR androgen receptor
ARC arcuate nucleus, region of the hypothalamus involved in feeding behavior
ARF1 ADP-ribosylation factor 1
ARG1 and ARG2 gene symbols for arginase; ARG1 predominates in the liver, ARG2 encodes mitochondrial enzyme found primarily in the kidneys
ARS autonomously replicating sequence
ARSA gene symbol for arylsulfatase A; also known as cerebroside 3-sulfatase
ARSB gene symbol for arylsulfatase B
AS Angelman syndrome
ASBT apical sodium-dependent bile salt transporter
ASM gene symbol for acid sphingomyelinase
ASAH gene symbol for acid ceramidase
ASD argininosuccinate synthetase deficiency, a UCD
AST: SGOT aspartate aminotransferase: serum glutamate oxaloacetate transaminase
AT ataxia telangiectasia
ATGL adipose triglyceride lipase; also known as patatin-like phospholipase domain-containing protein A2 (PNPLA2)
ATL aspirin-triggered lipoxin
ATM ataxia telangiectasia mutated gene
ATP10C gene symbol for aminophosphoplipid-transporting ATPase; found in the imprinted region of chromosome 15 associated with PWS
ATP2A1 gene symbol for ATPase, Ca2+ transporting, fast-twitch; also called sarco/endoplasmic-reticulum calcium ATPase 1 (SERCA1)
ATP2A2 gene symbol for ATPase, Ca2+ transporting, slow-twitch; also called sarco/endoplasmic-reticulum calcium ATPase 2 (SERCA2)
ATP2A3 gene symbol for ATPase, Ca2+ transporting, ubiquitous; also called sarco/endoplasmic-reticulum calcium ATPase 3 (SERCA3)
ATX autotaxin: same as lysophospholipase D (lysoPLD) which is an ecto-nucleotide phosphodiesterase
ATXN1 gene symbol for ataxin-1; trinucleotide repeat gene causing spinocerebellar ataxia 1 (SCA1)
ATXN2 gene symbol for ataxin-2; trinucleotide repeat gene causing spinocerebellar ataxia 2 (SCA2)
ATXN3 gene symbol for ataxin-3; trinucleotide repeat gene causing spinocerebellar ataxia 3 (SCA3); also known as the MJD1 gene for Machado-Joseph disease
ATXN7 gene symbol for ataxin-7; trinucleotide repeat gene causing spinocerebellar ataxia 7 (SCA7)
ATXN8OS gene symbol for ataxin-8 opposite strand; also called the spinocerebellar ataxia 8 (SCA8) gene
ATXN1L gene symbol for ataxin-1-like; also called brother of ataxin-1 (BOAT)
AZT azidothymidine; drug used in treating HIV infection

B    top

 
B4GALT1 gene symbol for β-1,4-galactosyltransferase
BAT brown adipose tissue
BCAA branched-chain amino acid
BCKD branched-chain α-ketoacid dehydrogenase
BCKDHA gene symbol for E1α subunit of branched-chain ketoacid dehydrogenase
BCKDHB gene symbol for E1β subunit of branched-chain ketoacid dehydrogenase
Bcl B-cell leukemia gene, found fused to Abl in chronic myelogenous leukemias due to chromosomal translocation
BCR break point cluster region
BCSL1 BCS1-like, member of the AAA family of ATPases, functions in formation of complex III of oxidative phosphorylation
BH2 and BH4 dihydro- and tetrahydrobiopterin, also abbreviated H2B and H4B
bHLH basic helix-loop-helix domain
BLT1 and BLT2 receptors for the leukotriene LTB4
BMP bone morphogenetic protein
BNP brain natriuretic peptide
BOAT gene symbol for brother of ataxin-1; more commonly called ataxin-1-like (ATXN1L)
BRSK brain-specific serine/threonine kinase; BRSK1 and BRSK2
BSEP bile salt export pump: also called ATP-binding cassette member B11 (ABCB11)
BSS Bernard-Soulier syndrome
BUN blood urea nitrogen
BWS Beckwith-Wiedemann syndrome

C    top

 
CaCM calcium calmodulin
CAH congenital adrenal hyperplasia
CAK CDK-activating kinase
CAMK1 Ca2+/calmodulin-dependent kinase 1
CaMKKβ Ca2+-calmodulin-dependent kinase kinase-β
cAMP cyclic AMP
CAPN10 calpain 10: polymorphisms associate with increased diabetes risk
CAR constitutive androstane receptor
CART cocaine and amphetamine-regulated transcript; hypothalamic neuropeptide involved in feeding behavior
CACT carnitine-acylcarnitine translocase; SLC25A20
CAT carnitine acyltransferase
CBS domain cystathionine β-synthase domain
CCK cholecystekinin
cdc cell division cycle
CDG congenital disorder of glycosylation
CDK cyclin-dependent kinase
CDKAL1 cyclin-dependent kinase-5 [CDK5] subunit associated protein 1-like 1: polymorphisms associated with increased diabetes risk
CDKN1B also known as p57KIP2 which is a cyclin-dependent kinase inhibitory protein
CDKN1C also known as p27KIP1 which is a cyclin-dependent kinase inhibitory protein; found in the imprinted region of chromosome 11 associated with BWS
CDKN2B cyclin-dependent kinase inhibitor 2B: polymorphisms associate with increased diabetes risk
CD-MPR cation-dependent mannose-6-phosphate receptor
C/EBP CCAAT/enhancer binding protein
CELF CUG-BP/ETR-3-like family of proteins involved in RNA splicing, RNA editing and translation
CEN centromere
CEP congenital erythropoietic porphyria
CETP cholesterol ester transfer protein
CGI-58 comparative gene identification-58; official gene name is α/β-hydrolase domain-containing protein-5, ABHD5
cGMP cyclic GMP
CGRP calcitonin gene related peptide
ChE cholinesterase
CHK2 check point kinase 2
ChREBP carbohydrate-response element binding protein
CHO Chinese hamster ovary
CI-MPR cation-independent mannose-6-phosphate receptor
CK creatine kinase
CK casein kinase
CMOAT gene symbol for canalicular multispecific organic anion transporter; also called ATP-binding cassette, subfamily C, member 2 gene, ABCC2 or multidrug resistance-associated protein 2 gene, MRP2
CNBr cyanogen bromide
CNS central nervous system
COMT catecholamine-O-methyltransferase
COPI coatamer protein coat-complex I
COPII coatamer protein coat-complex II
CoQ coenzyme Q; ubiquinone
COX cyclooxygenase; COX1 and COX2
CP creatine phosphate
CpG designates the dinucleotide which often contains methylated C residues
CPK or CK creatine phopshokinase: creatine kinase
CPO gene symbol for coproporphyrinogen oxidase
CPS1 and CPS2 gene symbols for carbamoylphosphate synthetase I and II; CPSI is found in the mitochondria and functions in the urea cycle; CPSII is cytosolic and functions in pyrimidine nucleotide synthesis
CPSD carbamoylphosphate synthetase deficiency, a UCD
CPT or CA carnitine palmitoyltransferase: carnitine acyltransferase, 2 forms CPT-1 (or CPT-I) and CPT-2 (or CPT-II)
CPU carboxypeptidase U
CRBP cellular retinol binding protein
CREB cAMP response element-binding protein
CRF or CRH corticotropin-releasing hormone (factor)
CRIM cross-reactive immunological material; term used in descriptions of different types of acute intermittent prophyria, AIP
CSF colony stimulating factor
CT calcitonin
CUG-BP1 CUG binding protein 1
CYP nomenclature prefix for cytochrome P450 class of enzymes
CYP7A1 cholesterol 7-hydroxylase; rate-limiting enzyme of classic pathway for bile acid synthesis
CYP7B1 oxysterol 7α-hydroxylase; enzyme in acidic pathway of bile acid synthesis
CYP8B1 sterol 12α-hydroxylase; bile acid synthesizing enzyme
CYP11A1 P450 side-chain cleavage enzyme, also called desmolase, cholesterol desmolase, 20,22 desmolase; involved in adreanl steroid hormone biosynthesis
CYP11B1 11β-hydroxylase, also called P450c11; involved in adrenal steroid hormone biosynthesis
CYP11B2 aldosterone synthase, also 18α-hydroxylase or P450c18; involved in adreanl steroid hormone biosynthesis
CYP17A1 has 2 activities: 17α-hydroxylase and 17,20-lyase, also called P450c17; involved in adrenal steroid hormone biosynthesis
CYP19A1 aromatase, also called estrogen synthetase; involved in adreanl steroid hormone biosynthesis
CYP21A2 21-hydroxylase; involved in adreanl steroid hormone biosynthesis; also known as CYP21 and CYP21B
CYP27A1 sterol 27-hydroxylase; initial enzyme of acidic pathway for bile acid synthesis
CysLT1 and CysLT2 receptors for peptidoleukotrienes which are also called cysteinyl leukotrienes

D    top

D5W dextrose 5% water
DAF: CD55 decay accelerating factor
DAG diacylglycerol
DAGL diacylglycerol lipase
DBD DNA-binding domain
DBP D-bifunctional protein; involved in peroxisomal fatty acid β-oxidation
DBT gene symbol for E2 subunit of branched-chain ketoacid dehydrogenase
DCC deleted in colo-rectal carcinoma
DDx differential diagnosis
DHA docasahexaenoic acid; important omega-3 fatty acid
DHAP dihydroxyacetone phosphate
DHAPAT dihydroxyacetone phosphate acyltransferase
DHEA dehydroepiandosterone
DHEA-S dehydroepiandosterone sulfate
DHF dihydrofolate
DHFR dihydrofolate reductase
DHPR dihydropteridine reductase
DHT dihydrotestosterone
DKA diabetic ketoacidosis
DLAT dihydrolipoyl transacetylase, gene symbol for the E2 subunit of several dehydrogenases such as pyruvate dehydrogenase, α-ketoglutarate dehydrogenase (also known as 2-oxoglutarate dehydrogenase), and branched-chain ketoacid dehydrogenase
DLD dihydrolipoyl dehydrogenase, gene symbol for the E3 subunit of several dehydrogenases such as pyruvate dehydrogenase, α-ketoglutarate dehydrogenase (also known as 2-oxoglutarate dehydrogenase), and branched-chain ketoacid dehydrogenase
DM1 myotonic dystrophy; for the Latin dystrophia myotonica
DMH dorsomedial hypothalamic nucleus; involved in stimulating gastrointestinal activity
DMPK gene symbol for dystrophia myotonica protein kinase gene; also identified as Mt-PK
DMPP dimethylallyl pyrophosphate
DMR differentially methylated region
DMT1 divalent metal transporter 1
DNP dinitrophenol; compound that uncouples electron flow from ATP production
DOC deoxycorticostereone
Dol dolichol
DOPA 3,4-dihydrophenylalanine
DPAGT1 gene symbol for UDP-GlcNAc: Dol-P-GlcNAc-P phosphotransferase
DPM1 gene symbol for catalytic subunit of Dol-P-Man synthase I (GDP-Man: Dol-P mannosyltransferase 1); enzyme complex composed of at least three subunits identified as DPM1, DPM2, and DPM3
DPP4: DPP IV dipeptidylpeptidase 4
DRPLA Dentatorubral-pallidoluysian atrophy; also the gene symbol for the atrophin-1 gene which is defective in this disease
DSI depolarization-induced suppression of inhibition; a term relating to neurochemical transmission in the CNS
DTT dithiothreitol

E    top

 
EAAT1 excitatory amino acid transporter 1
EAAT2 excitatory amino acid transporter 2
ECM extracellular matrix
EDG endothelial differentiation gene; GPCRs referred to as the EDG cluster; EDG-2 (LPA1), EDG4 (LPA2), and EDG7 (LPA3) bind lysophosphatidic acid (LPA); EDG-1, -3, -5, -6, and -8 bind sphingosine-1-phosphate (S1P)
EDRF endothelium derived relaxing factor
EDS Ehlers-Danlos syndrome
eEF eukaryotic translation elongation factor
EGF epidermal growth factor
eIF eukaryotic translation initiation fator
EMeg32 Erythroid and Megakaryocytic lineages, clone 32; also known as glucosamine 6-phosphate N-acetyltransferase (GNPNAT1)
EPA eicosapentaenoic acid; important omega-3 fatty acid
EPI extrinsic pathway inhibitor
EPO erythropoietin
EPP erythropoietic protoporphyria
ER endoplamic reticulum
ER estrogen receptor
ERCC excision repair cross complementing 1 gene; the ERCC genes are also called excision repair, complementing defective, in Chinese hamster
ERK extracellular signal-regulated kinase
ERR estrogen related receptor
ERT enzyme replacement therapy

F    top

 
F8 gene symbol for factor VIII gene
F9 gene symbol for factor IX gene
F10 gene symbol for factor X gene
F11 gene symbol for factor XI gene
F12 gene symbol for factor XII gene
F13 gene symbol for factor XII gene
F1,6,BP fructose-1,6-bisphophate
F1,6BPase fructose-1,6-bisphosphatase
F1P fructose-1-phosphate
F2,6BP fructose-2,6-bisphosphatase
F6P fructose-6-phosphate
FAAH fatty acid amide hydrolase
FABPc cytosolic fatty acid-binding protein
FABPpm plasma membrane-associated fatty acid-binding protein
FADH2 flavin adenine dinucleotide
FAP familial adenomatous polyposis coli
FAPα fibroblast activation protein alpha
FAS fatty acid synthase
FAT fatty acid translocase, also known as class B scavenger receptor CD36
FATP fatty acid transport protein; six family members FATP1 – FATP6
FBN1 gene symbol for fibrillin
FBN2 gene symbol for a gene highly homologous to fibrillin but on a different chromosome; defects in FBN2 result in contractural arachnodactyly
FECH gene symbol for ferrochelatase
FGF fibroblast growth factor
FGFR fibroblast growth factor receptor
FH familial hypercholesterolemia
FIZZ found in inflammatory zone: a family of proteins that includes resistin which is also called FIZZ3
FK506 an immunophilin, suppressor of immune responses like rapamycin
FKBP FK506 binding protein
FKHRL1 fork-head domain containing transcription factor; member of the FoxO family and identified as FoxO3a
FLAP 5-lipoxygenase (5-LOX) activating protein
FMN flavin mononucleotide
FMR1 fragile mental retardation 1 gene, Fragile X syndrome
FMR2 fragile mental retardation 2 gene, Fragile XE mental retardation
FMRP protein product of the FMR1 gene
FOS oncogene originally identified as causative agent in Finkel-Biskis-Jinkins (FBJ) murine osteogenic sarcoma virus
FoxO1 transcription factor of the forkhead domain containing transcription factor family; called the FoxO family; also called FKHR
FoxO3A transcription factor of the forkhead domain containing transcription factor family; called the FoxO family; also called FKHRL1
FPG fasting plasma glucose
FPP farnesyl pyrophosphate
FPR formyl peptide receptor
FRAP FKBP12-rapamycin associated protein
FRAXA fragile X syndrome locus that belongs to the class of folate-sensitive rare fragile sites
FRAXE fragile XE mental retardation locus that belongs to the class of folate-sensitive rare fragile sites
FRDA Friedreich ataxia
FSH follicle-stimulating hormone
Fuc fucose
FUCA1 gene symbol for α-fucosidase-1
FUCT1 gene symbol for GDP-fucose transporter; also identified as solute carrier family 35, member C1: SCL35C1
FXN gene symbol for frataxin
FXR farnesoid X receptor

G    top

 
G0S2 G0/G1 switch protein 2; peptide inhibitor of adipose triglyceride lipase (ATGL) expressed by mononuclear cells
G I glucosidase I
G II glucosidase II
G1P glucose-1-phosphate
G3P glyceraldehyde-3-phosphate
G6P glucose 6-phosphate
G6PC gene symbol for glucose 6-phosphatase
G6PD gene symbol for glucose 6-phosphate dehydrogenase
G6PDH glucose 6-phosphate dehydrogenase
G6PT1 gene symbol for glucose 6-phosphate transporter 1
GAA gene symbol for α-glucosidase
GABA γ-amino butyric acid
GAD glutamic acid decarboxylase
GAG glycosaminoglycan
GAL galanin
GALC gene symbol for galactosylceramidase; formally identified as galactocerebroside β-galactosidase
GalNAc N-acetylgalactosamine
GALNS gene symbol for N-acetylgalactosamine 6-sulfatase, also called galactose 6-sulfatase
GALP galanin-like peptide
GAP GTPase activating protein
GAPDH glyceraldehyde-3-phosphate dehydrogenase
Gb3 globotriaosylceramide; predominant glycolipid accumulating in Fabry disease, a lysosomal storage disease
GBA gene symbol for acid β-glucosidase; also called glucocerebrosidase
GBD glycogen-binding domain
GBE1 gene symbol for glycogen branching enzyme; also called amylo-(1,4 to 1,6) transglycosylase
GBF1 Golgi Brefeldin A resistance factor; is a guanine nucleotide exchange factor
GCC glycine cleavage complex
G-CSF granulocyte colony stimulating factor
GDE glycogen debranching enzyme; also called amylo-1,6-glucosidase, AGL
GEF guanine nucleotide exchange factor
GFAT glutamine:fructose-6-phosphate aminotransferase 1; also identified as GFPT1
GFPT1 glutamine:fructose-6-phosphate aminotransferase 1; more commonly identified as GFAT
GH growth hormone, also called somatotropin
GIH growth hormone-inhibiting hormone, same as somatostatin; also called GIF for growth hormone-inhibiting factor
GIP glucose-dependent insulinotropic peptide; used to be called gastric inhibitory peptide
GLA gene symbol for α-galactosidase A
GLB1 gene symbol for β-galactosidase-1
GlcNAc N-acetylglucosamine
GLD globoid cell leukodystrophy; commonly known as Krabbe disease
GLP-1 glucagon-like peptide 1
GLP-2 glucagon-like peptide 2
GLS1 gene symbol for glucosidase I (G I)
GLUT glucose transporter, at least 14 members, common are GLUT1 through GLUT5
GM2A gene symbol for GM2 activator
GM-CSF granulocyte-macrophage colony stimulating factor
GNPAT gene symbol for dihydroxyacetone phosphate acyltransferase (for glyceronephosphate O-acyltransferase)
GNPNAT1 gene symbol for glucosamine 6-phosphate N-acetyltransferase; also commonly called EMeg32 (Erythroid and Megakaryocytic lineages clone 32)
GnRF or GnRH gonadotropin-releasing hormone (factor)
GNS gene symbol for N-acetylglucosamine 6-sulfatase
GP1BA gene symbol for GPIbα which is member of the platelet surface glycoprotein complex composed of GPIbα, GPIbβ, GPIX and GPV
GP1BB gene symbol for GPIbβ which is member of the platelet surface glycoprotein complex composed of GPIbα, GPIbβ, GPIX and GPV
GP3A gene symbol for GPIIIa (β3) which encodes a protein of the platelet surface glycoprotein complex, GPIIb-GPIIIa, that is a member of integrin family of cell surface receptors and is also called the αIIb-β3 integrin receptor; also identified by gene symbol ITGB3
GP5 gene symbol for GPV which is member of the platelet surface glycoprotein complex composed of GPIbα, GPIbβ, GPIX and GPV
GP9 gene symbol for GPIX which is member of the platelet surface glycoprotein complex composed of GPIbα, GPIbβ, GPIX and GPV
GPAT glycerol-3-phosphate acyltransferase
GPD1 gene encoding cytoplasmic form of glycerol-3-phosphate dehydrogenase
GPD2 gene encoding mitochondrial form of glycerol-3-phosphate dehydrogenase
GPCR G-protein coupled receptor
GPI glycosylphosphatidylinositol
GPx1 glutathione peroxidase 1; catalyzes the reduction of organic hydroperoxides and hydrogen peroxide by glutathione; additional glutatjhione peroxidase genes include GPx3, GPx4, and GPx5
GR or GCCR glucocorticoid receptor
GRACILE growth retardation, aminoacidurina, cholestasis, iron overload, lactic acidosis, early death
Grb2 growth factor receptor-bound protein 2; a cytoplasmic adaptor protein that links EGFR (epidermal growth factor receptor) and PDGFRB (platelet-derived growth factor β-receptor) to RAS and RAC signaling pathways, and is involved in mitogenesis and cytoskeletal reorganization; contains two SH3 and one SH2 domain
GRH growth hormone releasing hormone
GRK3 G-protein coupled receptor kinase 3
GS glycogen synthase
GSD glycogen storage disease
GSH glutathione
GSK3 glycogen synthase kinase-3
GSK4 glycogen synthase kinase-4
GSSG oxidized glutathione
GUSB gene symbol for β-glucuronidase

H    top

 
H2B and H4B dihydro- and tetrahydrobiopterin, also abbreviated BH2 and BH4
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, alpha subunit; alpha subunit of the mitochondrial trifunctional protein (MTP) that catalyzes the last three steps of mitochondrial fatty acid β-oxidation
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit; beta subunit of the mitochondrial trifunctional protein (MTP) that catalyzes the last three steps of mitochondrial fatty acid β-oxidation
HAMP gene symbol for hepcidin
Hap1 huntingtin-associated protein 1
HbA1c glycosylated hemoglobin
HbF designates fetal hemoglobin
HBP hexosamine biosynthesis pathway
HbS designates hemoglobin form in sickle cell disease
hCG human chorionic gonadotropin
HCI or HCR heme-controlled inhibitor; heme controlled repressor
HCP hereditary copropophyria
HD Huntington disease
HDAC histone deacetylase
HDL high density lipoporotein
HEMPAS hereditary erythroblastic multinuclearity with positive acidified-serum test, same as congenital dyserythropoietc anemia type II
HETE hydroxyeicosatetraenoic acid
HEXA gene symbol for α-subunit of β-hexosaminidase
HEXB gene symbol for β-subunit of β-hexosaminidase
HFCS high fructose corn syrup
HFE1 inherited hemochromatosis susceptibility gene; encodes an α-chain protein with three immunoglobulin-like domains that associates with β2-microglobulin
HFE2A juvenile hemochromatosis type 2A resulting from defects in hemojuvelin gene (HJV)
HFE2B juvenile hemochromatosis type 2B resulting from defects in hepcidin gene (HAMP)
HFE3 type 3 hemochromatosis resulting from defects in transferrin receptor-2 gene (TFR2)
HFE4 type 4 hemochromatosis, also called ferroportin disease because it is caused by mutations in the ferroportin, the ferroportin gene is also identified as IREG1 (iron-regulated gene 1), MTP1 (reticuloendothelial iron transporter), SLC11A3 [solute carrier family 11 (iron-regulated transporter), member 3], and SCL40A1 [solute carrier family 40 (iron-regulated transporter), member 1]
HGF hepatocyte growth factor
HGO gene symbol for homogentisic acid oxidase
HGSNAT gene symbol for acetyl-CoA:α-glucosaminide acetyltransferase; also called heparan-α-glucosaminide N-acetyltransferase; has also been called transmembrane protein 76 (TMEM76)
HHEX hematopoietically expressed homeobox: polymorphisms associate with increased diabetes risk
HIV human immunodeficiency virus
HJV gene symbol fo rhemojuvelin
HMBS gene symbol for hydroxymethylbilane synthase; also known as porphobilinogen deaminase, PBGD
HMG-CoA hydroxymethylglutaryl-CoA, 3-hydroxy-3-methyl glutaryl-CoA
HMGR HMG-CoA reductase, 3-hydroxy-3-methylglutaryl-CoA reductase
HMIT proton (H+) myoinositol symporter: SLC2A13
HMWK high molecular weight kininogen
HNF1α hepatocyte nuclear factor-1α
HNF4α hepatocyte nuclear factor-4α
hnRNP heteronuclear ribonuclear protein
HOMT hydroxyindole-O-methyltransferase
HPA hyperphenylalaninemia
HPETE hydroperoxyeicosatetraenoic acid
HPFH hereditary persistence of fetal hemoglobin
hPL human placental lactogen
HPLC high-performance (or pressure) liquid chromatography
HPRT gene symbol for hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
HRE hormone response element
HSD17B3 gene symbol for 17β-hydroxysteroid dehydrogenase type 3
HSD3B2 gene symbol for 3β-hydroxysteroid dehydrogenase
HSL hormone-sensitive lipase
HTGL hepatic triglyceride lipase
HTLV human T-cell leukemia virus
HTT gene symbol for huntingtin

I    top

 
IAA insulin auto-antibodies: anti-insulin antibodies
IBABP ileal (intestinal) bile acid binding protein; also known as fatty acid-binding protein 6: FABP6
ICAM-1 intercellular cell adhesion molecule-1
ICCA islet cell cytoplasmic antibodies
ICSA islet cell surface antigen
IDDM insulin-dependent diabetes mellitus
IDH isocitrate dehydrogenase
IDS gene symbol for iduronate sulfatase
IDUA gene symbol for α-L-iduronidase
IGF-1 insulin-like growth factor 1
IGF-2 insulin-like growth factor 2
IGFBP2 insulin-like growth factor binding protein 2: polymorphisms associated with increased diabetes risk
IL interleukin
INF or IF interferon: α-Ifs are leukocyte-derived, β-Ifs are fibroblast-derived, γ-Ifs are lymphocyte derived
INSIG insulin-induced gene
IP3 inositol-1,4,5-trisphosphate
IRBP iron response element binding protein
IRD infantile Refsum disease
IRE iron response element
IREG1 gene symbol for iron-regulated transporter 1; is also called ferroportin 1, reticuloendothelial iron transporter (MPT1), solute carrier family 11 (iron-regulated transporter), member 3 [SLC11A3], or solute carrier family 40 (iron-regulated transporter), member 1 [SLC40A1]
IRS1 – IRS4 insulin receptor substrate-1, -2, -3, and -4
ISC Fe-S type iron sulfur center
ITGA2B gene symbol for GPIIb (αIIb) which encodes a protein of the platelet surface glycoprotein complex, GPIIb-GPIIIa, that is a member of integrin family of cell surface receptors and is also called the αIIb-β3; also has the gene symbol GP3A integrin receptor
ITGB3 gene symbol for GPIIIa (β3) which encodes a protein of the platelet surface glycoprotein complex, GPIIb-GPIIIa, that is a member of integrin family of cell surface receptors and is also called the αIIb-β3 integrin receptor; also identified by gene symbol GP3A

J    top

 
JH juvenile hemochromatosis
JNK JUN N-terminal kinase
JUN a kinase that was originally identified as a retroviral oncogene; JUN is Japanese for five

K    top

 
KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11: forms the core of the K+-ATP channel involved in pancreatic secretion of insulin: polymorphisms associate with increased diabetes risk
KCNQ1 gene symbol for a subunit of a voltage-gated potassium channel, was previously called KvLQT1; found in the imprinted region of chromosome 11 associated with BWS
KCNQ10T1 gene symbol for a gene present in intron 10 of the KCNQ1 gene that encodes a non-coding RNA expressed in the antisense direction relative to KCNQ1; found in the imprinted region of chromosome 11 associated with BWS
KD Kennedy disease; more commonly called spinobulbar muscular atrophy (SBMA)
αKGDH α-ketoglutarate dehydrogenase
KHK ketohexokinase; two isoforms KHK-A and KHK-C, phosphorylate fructose
Kir6.2 same as KCNJ11

L    top

LACI lipoprotein-associated coagulation inhibitor
LAD leukocyte adhesion deficiency
LAL lysosomal acid lipase; important lysosoaml enzyme involved in lipid metabolism; deficiency in LAL results in Wolman disease
LBD ligand-binding domain
LBP L-bifunctional protein; involved in peroxisomal fatty acid β-oxidation
LCAD long chain acylCoA dehydrogenase
LCAT lecithin cholesterol acyltransferase
LCFA long-chain fatty acid
LCK Lystra cell kinase: pronounced "lick"
LCR ligase chain reaction
LDH lactate dehydrogenase
LDL low density lipoprotein
LDLR low density lipoprotein receptor
LFA-3 lymphocyte function associated antigen-3
LH luteinizing hormone
LHRH luteinizing hormone releasing hormone
LKB1 liver kinase B1; kinase that phosphorylates AMPK and AMPK-related kinases; also known as serine threonine kiase 11 (STK11) and the Peutz-Jaeger syndrome (PJS) gene product
LLO lipid-linked oligosaccharide; also called the en bloc oliogosaccharide
LMWK low molecular weight kininogen
LNS Lesch-Nyhan syndrome
LOX lipoxygenase; 3 members of enzyme family: LOX-5, LOX-12 and LOX-15
LP lysophospholipid
LPA lysophospholipid receptor
Lp-PLA2 lipoprotein-associated phospholipase A2
LPC lysophosphatidylcholine
LPH lipotropin
L-PK liver isoform of pyruvate kinase
LPL lipoprotein lipase
LPL lysophospholipid
Lp-x lipoprotein X;  found in the circulation of patients suffering from LCAT deficiency or cholestatic liver disease
LT leukotriene
LTR long terminal repeat; elements found at the ends of retroviral genomes, act as strong transcriptional promoters
LX lipoxin
LXR liver X receptor

M    top

 
MAGEL2 gene symbol for MAGE-like protein 2 where MAGE family are melanoma antigen proteins; found in the imprinted region of chromosome 15 associated with PWS
Man mannose
MAN2B1 gene symbol for α-mannosidase
MANBA gene symbol for β-mannosidase
MAO monoamine oxidase
MAPK microtubule-associated protein kinase: mitogen-activated protein kinase
MAPK mitogen-activated protein kinase; microtubule-associate protein kinase
MARK microtubule affinity-regulating kinase; MARK1 through MARK4
MBNL Muscleblind-like; a protein involved in the regulation of alternative splicing
MCAD medium-chain acyl-CoA dehydrogenase
MCD malonyl-CoA decarboxylase
MCH melanin concentrating hormone
M-CSF macrophage colony stimulating factor
MDH malate dehydrogenase
MDM2 ubiquitin ligase originally isolated from mouse tumorigenic cell line 3T3DM
MDR medium-chain dehydrogenase/reductase; superfamily of enzymes that includes the alcohol dehydrogenases (ADH)
MDR3 multidrug resistance protein 3: also called ATP-binding cassette member B4, ABCB4
MeCP2 methyl Cp-binding protein 2
MEF-2 myocyte enhancer factor-2
MELK maternal embryonic leucine zipper kinase
MEOS microsomal ethanol oxidizing system
MFS Marfan syndrome
MGAT2 gene symbol for UDP-N-acetylglucosamine:α-6-D-mannoside-β-1,2-N-acetylglucosaminyltransferase II (GlcNAc-TII)
MGEA5 meningioma-expressed antigen 5 gene; also known as OGA (O-GlcNAcase, β-N-acetylglucosamindase)
MGL monoacylglyceride lipase
mGluR metabotropic glutamate receptor
MHC major histocompatibility complex
miRNA micro RNA
MKP-1 mitogen-activated protein kinase (MAPK) phosphatase-1
MKRN3 gene symbol for makorin ring finger protein 3; member of a family of ubiquitin ligases; found in the imprinted region of chromosome 15 associated with PWS
MLCK myosin light-chain kinase
MLD metachromatic leukodystrophy
MMR mismatch repair
Mnk1 and Mnk2 MAP-interacting kinases; these phosphorylate eIF-4E
MO25 mouse protein 25
MODY maturity onset-type diabetes in the young
MPDU1 gene symbol for Man-P-Dol utilization defect 1
MPI gene symbol for phosphomannose isomerase
MPR mannose 6-phosphate receptor
MPS mucopolysaccharidosis; lysosomal storage diseases
MR mineralocorticoid receptor
mRNA messenger RNA
MRP2 gene symbol for multidrug resistance associated protein 2; also called ATP-binding cassette, sub-family C, member 2, ABCC2 or canalicular multispecific organic anion transporter gene, CMOAT
MSH melanocyte-stimulating hormone
MSUD maple syrup urine disease
MTMR1 myotubularin related protein 1; myotubularin is a phosphoserine and phosphotyrosine phosphatase
mTOR mammalian target of rapamycin
mTORC1 mammalian target of rapamycin complex 1
mTORC2 mammalian target of rapamycin complex 2
MTP mitochondrial trifunctional protein; carries out the last three reactions of mitochondrial fatty acid β-oxidation
MYC proto-oncogene first identified in avian myelocytomatosis virus: pronounced "mick"

N    top

 
NADH nicotinamide adenine dinucleotide
NADPH nicotinamide adenine dinucleotide phosphate
NAE N-acylethanolamine
NAGLU gene symbol for α-N-acetylglucosaminidase
NALD neonatal adrenoleukodystrophy
NANA N-acetylneuraminic acid: sialic acid
NAPE N-acylphosphatidylethanolamine
NAPE-PLD N-acylphosphatidylethanolamine-specific phospholipase D
N-CAM neural cell adhesion molecule
NCoR nuclear receptor corepressor 1
NDN gene symbol for necdin; a growth suppressor expressed predominantly in postmitotic neurons; found in the imprinted region of chromosome 15 associated with PWS
NE niacin equivalents
NEDD neural precursor cell expressed, developmentally down-regulated
NEDD8 member of the NEDD gene family originall characterized as neural precursor cell expressed, developmentally down-regulated gene; this member is 80% homologous to ubiquitin and is added to proteins by ubiquitin ligase family enzymes targeting the proteins for degradation as in the case of ubiquitinylation; process termed neddylation
NEU1 gene symbol for neuraminidase
NF1 neurofibromatosis type-1 susceptibility locus
NFκB nuclear factor kappa B
NGF nerve growth factor
NGFR nerve growth factor receptor
NIDDM non-insulin-dependent diabetes mellitus
NMDA ionotropic glutamate receptor subtype originally shown to be activated by N-methyl-D-aspartate
NO nitric oxide
NOS nitric oxide synthase: 3 types: nNOS (neuronal NOS, NOS-1) iNOS (inducible NOS, NOS-2), eNOS (endothelial NOS, NOS-3)
NP-A Niemann-Pick disease type A
NP-B Niemann-Pick disease type B
NP-C Niemann-Pick disease type C
NPC1 gene symbol for defective gene associated with Niemann-Pick disease type C
NPC2 gene symbol for defective gene associated with Niemann-Pick disease type C; was originally identified as the lysosomal glycoprotein, epididymal secretory protein (HE1)
NP-D Niemann-Pick disease type D
NPY neuropeptie tyrosine
NSAID non-steroidal antiinflammatory drug
NTCP Na+-taurocholate cotransporting polypeptide: also called SLC10A1 for solute carrier family 10 (sodium/bile acid cotransporter) family member 1
NTS nucleus of the solitary tract (NTS for latin term nucleus tractus solitarii), specialized cells within the medulla responsible for sensations of taste and visceral sensations of stretch
NUAK nuclear AMPK-related kinase; NUAK1 and NUAK2

O    top

 
OAA oxaloacetic acid
OATP1B1 Na+-independent organic anion transporting polypeptide 1B1; gene symbol is SLCO1B1
ODC ornithine decarboxylase
OGA O-GlcNAcase; β-N-acetylglucosamindase; also known as MGEA5 for meningioma-expressed antigen 5 gene
OGT O-GlcNAc transferase; UDP-N-acetylglucosamine:polypeptide β-N-acetylglucosaminyltransferase
OGTT oral glucose tolerance test
OI osteogenesis imperfecta
Opn osteopontin
OSCP oligomycin sensitivity-conferring protein; a protein that connect the F1 and F0 proteins of ATP synthase in the mitochondria
OTC ornithine transcarbamoylase
OTCD ornithine transcarbamoylase deficiency; a UCD

P    top

 
P450c11 proper nomenclature is CYP11B1; 11β-hydroxylase
P450c17 has 2 activities: 17α-hydroxylase and 17,20-lyase; properly called CYP17A1
P450c18 proper nomenclature is CYP11B2: aldosterone synthase, also 18α-hydroxylase
P450c21 proper nomenclature is CYP21A2: 21-hydroxylase; also called CYP21 or CYP21B
P450ssc proper nomenclature is CYP11A1: P450 side-chain cleavage enzyme, also called desmolase, cholesterol desmolase, and 20,22 desmolase
p70S6K small ribosomal subunit protein S6 kinase
PABP polyA-binding protein
PAF platelet activating factor
PAGE polyacrylamide gel electrophoresis
PAGM phosphohexosamine mutase, enzyme in the hexosamine biosynthesis pathway, HBP
PAH phenylalanine hydroxylase
PAHX gene symbol for phytanoyl-CoA hydroxylase; also identified as PHYH
PAI plasminogen activator inhibitor; PAI-1, PAI-2
PAP1 phosphatidic acid phosphatase
PAPS 3'-phosphoadenosine-5'-phosphosulfate
PAR protease-activated receptor; PAR-1, PAR-3, and PAR-4 are receptors to which thrombin binds, PAR-2 is activated by trypsin-like serine proteases
PBD peroxisome biogenesis disorder
PBG porphobilinogen
PBGD gene symbol for porphobilinogen deaminase; also known as hydroxymethylbilane synthase, HMBS
PC pyruvate carboxylase
PcG polycomb group
PCOS polycystic ovarian syndrome
PCR polymerase chain reaction
PCR-SSCP technique using PCR to amplify a segment of DNA followed by SSCP analysis by gel electrophoresis
PCT porphyria cutanea tarda
PD protectin
PDE phosphodiesterase
PDGF platelet-derived growth factor
PDGFR platelet-derived growth factor receptor
PDH pyruvate dehydrogenase
PDK, PDK1 PIP3-dependent protein kinase
PDK1, PDK2, PDK3, PDK4 pyruvate dehydrogenase kinases
PDP pyruvate dehydrogenase phosphatase
PEP phosphoenoylpyruvate
PEPCK phosphoenolpyruvate carboxykinase
PERC PGC-1-related estrogen receptor-α co-activator
PET positron emission tomography
PEX designation for peroxisomal proteins
PFGE pulsed-field gel electrophoresis; used for electrophoretic separation of large DNA pieces
PFK-1 6-phosphofructo-1-kinase
PFK-2 6-phosphofructo-2-kinase
PG prostaglandin
PGAM1 phosphoglycerate mutase
PGC-1α PPARγ coactivator-1α
PGC-1β PPARγ coactivator-1β
PGK phosphoglycerate kinase
PGS prostaglandin synthase; prostaglandin endoperoxide synthetase
PHAS properties of heat and acid stability: PHAS was the original designation for eIF-4 binding proteins now called 4EBPs
PHI phosphohexose isomerase, converts glucose-6-phosphate (G6P) to fructose-6-phosphate (F6P)
PHLDA2 gene symbol for plekstrin homology-like domain, family A, member 2; found in the imprinted region of chromosome 11 associated with BWS
PhyH phytanoyl-CoA hydroxylase
PHYH gene symbol for phytanoyl-CoA hydroxylase; also identified as PAXH
PI3K phosphoinositide-3-kinase, made up of p85 regulatory subunit, polypeptide 1 (p85-a); 85 kDa; binds to tyrosine kinase receptors. PI3K is also made up of a catalytic subunit; 110 kDa
PIF prolactin-release inhibiting factor
PIH prolactin inhibiting hormone
PIP2 phosphatidylinositol-1,4-bisphosphate
PIP3 phosphatidylinositol-1,4,5-trisphosphate
PJS Peutz-Jeghers syndrome gene, also known as LKB1 and STK11; is a kinase that phosphorylates AMPK and AMPK-related kinases
PK pyruvate kinase
PKA cAMP-dependent protein kinase
PKB protein kinase B, first identified as oncogene in AKT8 virus isolated from an AKR mouse spontaneous thymoma; there are 3 members of the Akt family, Akt1, Akt2, and Akt3 with Akt1 being the original virus isolate; Akt2 is important in insulin-mediated glucose homeostasis
PKC Ca2+-phospholipid-dependent protein kinase
PKD DNA-dependent protein kinase
PKG cGMP-dependent protein kinase
PKU phenylketonuria
PLA2 phospholipase A2
PLCG gene symbol for phospholipase C-γ
PLD phospholipase D
PLE protein losing enteropathy
PLP pyridoxal phosphate
PMF proton motif force
PMM2 gene symbol for phosphomannomutase 2
PMN polymorphonuclear leukocyte
PMP35 peroxisomal membrane protein 3; also identified as PXMP3 or PEX3
PNS peripheral nervous system
PNPLA2 patatin-like phospholipase domain-containing protein A2; more commonly called adipose triglyceride lipase (ATGL)
POMC pro-opiomelanocoticotropin
PON1 paraoxonase 1; hydrolyzes oxon metabolites of organophosphates, hydrolyzes aromatic esters preferably of acetic acid, hydrolyzes a variety of aromatic and aliphatic lactones, and catalyzes the lactonization of γ- and δ-hydroxycarboxylic acids; there are three PON genes, PON1, PON2, and PON3, all aligned next to each other on chromosome 7
POR gene symbol for cytochrome P450 oxidoreductase; a flavoprotein that donates electrons to all microsomal P450 enzymes such as CYP17A1, CYP21A2, and CYP19A1
PP pancreatic polypeptide
PP-1 protein phosphatase 1
PP2C protein phosphatase 2C
PPAR peroxisome proliferator-activated receptor: PPARα, PPARβ/δ, PPARγ
PPARA gene symbol for peroxisome proliferator-activated receptor-α
PPARα peroxisome proliferator-activated receptor-α
PPARβ/δ peroxisome proliferator-activated receptor-β/δ
PPARD gene symbol for peroxisome proliferator-activated receptor-δ
PPARG gene symbol for peroxisome proliferator-activated receptor-γ
PPARγ peroxisome proliferator-activated receptor-γ
PPCA protective protein/cathepsin A
PPI-1 protein phosphatase inhibitor 1
PPP pentose phosphate pathway
PPP2R2B gene symbol for protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform; trinucleotide repeat gene causing spinocerebellar ataxia 12 (SCA12)
PPO protoporphyrinogen oxidase
PPOX gene symbol for protoporphyrinogen oxidase
PPRE peroxisome proliferator-activated receptor response element
PR or PGR progesterone receptor
PRC PGC-1 related coactivator
PRF prolactin-releasing factor
PRKAG2 gene symbol for γ2 subunit of AMPK
PRPP 5'-phosphoribosyl-1'-pyrophosphate
PRPS gene symbol for 5'-phosphoribosyl-1'-pyrophosphate synthetase
PRL prolactin
PSP protein serine/threonine phosphatase
PTEN phosphatase and tensin homology protein
PTG protein targeting glycogen
PTGS posttranscriptional gene silencing
PTH parathyroid hormone
PTK protein tyrosine kinase
PTP protein tyrosine phosphatase
PTS1 peroxisomal targeting sequence 1
PTS2 peroxisomal targeting sequence 2
PUFA polyunsaturated fatty acid
PVN paraventricular nucleus, hypothalamic region involved in oxytocin and vasopressin release
PWS Prader-Willi syndrome
PXMP3 peroxisomal membrane protein 3; also identified as PMP35 or PEX3
PXR pregnane X receptor
PYGM gene symbol for muscle phosphorylase
PYY peptide tyrosine tyrosine

Q    top

 
QIK Qin-induced kinase, more commonly called SIK2 for salt-induced kinase 2
QSK more commonly called SIK3 for salt-induced kinase 3

R    top

 
R5P ribose-5-phosphate
RAR retinoic acid receptor
RB retinoblastoma susceptibility gene
RBC red blood cell
RBP retinol binding protein
RCDP1 rhizomelic chondrodysplasia punctata, type 1
RDS respiratory distress syndrome
RER rough endoplasmic reticulum
RFLP restriction fragment length polymorphism
RHEB RAS homolog enriched in brain
RING Really Interesting New Gene
RING domain zinc-finger-like domain found in 275 different proteins many of which are ubiquitin ligases
RIP-140 receptor-interacting protein 140
RITS RNA-induced transcriptional silencing complex
RNAi RNA-interference
ROR retinoid-related orphan receptor
rRNA ribosomal RNA
RSK2 p90 small ribosomal protein S6 kinase; also functions as a histone phosphorylating enzyme
RSS Russell-Silver syndrome
RT reverse transcription, reverse transcriptase
RTK receptor tyrosine kinase
RT-PCR reverse transcription followed by polymerase chain reaction
RXR retinoid X receptor
RYR1 ryanodine receptor 1

S    top

 
S1P sphingosine-1-phosphate
S6K p70 small ribosomal subunit protein S6 kinase
SAM S-adenosylmethionine
SAR1 small GTP-binding protein 1
SBMA spinobulbar muscular atrophy
SCA spinocerebellar ataxia
SCAD short chain acylCoA dehydrogenase
SCAP SREBP cleavage-activating protein
SCD1 steroyl-CoA desaturase 1
SCF ubiquitin ligase complex: cell cycle regulatory enzyme complex, named after its 3 main protein subunits = Skp1/Cullin/F-box protein; cullin also called cdc53; F-box is a domain in many proteins; the F-box in SCF in yeast is cdc4; the F-box protein called Skp2 is a component of the human S-phase CDK complex
SCID severe combined immunodeficiency syndrome
SCP2 gene symbol for sterol carrier protein (SCP)-2/3-oxoacyl-CoA thiolase
SCPx sterol carrier protein (SCP)-2/3-oxoacyl-CoA thiolase
SDH succinate dehydrogenase
SDS sodium dodecylsulfate
SDS-PAGE protein electrophoresis technique where proteins are uniformly negatively charged by SDS
SERCA1 gene symbol for sarco/endoplasmic-reticulum calcium ATPase 1; also called ATPase, Ca2+ transporting, fast-twitch 1
SERCA2 gene symbol for sarco/endoplasmic-reticulum calcium ATPase 2; also called ATPase, Ca2+ transporting, slow-twitch 2
SERCA3 gene symbol for sarco/endoplasmic-reticulum calcium ATPase 3; also called ATPase, Ca2+ transporting, ubiquitous
SGLT2 sodium-glucose co-transporter: target for treatment of hyperglycemia in diabetes
SGOT serum glutamate oxalate transaminase
SGPT serum glutamate pyruvate transaminase
SGSH gene symbol for heparan N-sulfatase, also called sulfamidase or N-sulfoglucosamine sulfohydrolase
SH2 SRC-homology domain 2
SH3 SRC-homology domain 3
Shc a novel SH2 containing protein isolated by screening cDNA libraries with SH2 DNA probes, at least 2 proteins 46kDa and 52kDa
shh sonic hedgehog
SHP small heterodimer partner
SIF somatostatin, same as GIF
SIK salt-induced kinase; SIK1, SIK2(QIK) and SIK3(QSK)
siRNA small inteferring RNA
SIRT1 to SIRT7 sirtuin family members; enzymes are NAD+-dependent deacetylases; SIRT1 it the human homolog of the yeast (S. cerevisiae) Sir2 gene: Silent mating type Information Regulator 2
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter) family member 1; also called NTCP for Na+-taurocholate cotransporting polypeptide
SLC11A3 solute carrier family 11 (iron-regulated transporter), member 3; also known as iron-regulated gene 1 (IREG1), ferroportin, reticuloendothelial iron transporter (MPT1), or solute carrier family 40 (iron-regulated transporter), member 1 [SLC40A1]
SLC2A1 solute carrier family 2, member A1: GLUT1
SLC2A13 same as HMIT
SLC2A2 solute carrier family 2, member A2: GLUT2
SLC2A3 solute carrier family 2, member A3: GLUT3
SLC2A4 solute carrier family 2, member A4: GLUT4
SLC2A5 solute carrier family 2, member A5: GLUT5
SLC22A18 solute carrier family 22 (organic cation transporter), member 18; found in the imprinted region of chromosome 11 associated with BWS
SLC30A8 solute carrier family 30 [zinc transporter], member 8: polymorphisms associated with increased diabetes risk
SLC35C1 solute carrier family 35, member C1; also identified as GDP-fucose transporter: FUCT1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1; also known as as iron-regulated gene 1 (IREG1), ferroportin, reticuloendothelial iron transporter (MPT1), and solute carrier family 11 (iron-regulated transporter), member 3
SLC6A19 solute carrier family 6 (neurotransmitter transporter), member 19; involved in neutral amino acid transport, deficiency results in Hartnup disorder; protein also called system B(0) neutral amino acid transporter 1 [B(0)AT1]
SLCO1B1 gene symbol for Na+-independent organic anion transporting polypeptide 1B1, OATP1B1, also previously called OATP-C
SLE systemic lupus erythematosis
SMAX1 spinal and bulbar muscular atrophy, X-linked 1; more commonly called spinobulbar muscular atrophy
SMRT silencing mediator of retinoid and thyroid hormone receptor
SNA serotonin N-acetylase
SNARE soluble-N-ethylmaleimide-sensitive factor attachment protein receptor
SNARK SNF1/AMPK-related kinase, more commonly called NUAK2 which is nuclear AMPK-related kinase
SNF sucrose non-fermenting; this is a chromosome remodeling complex protein
snoRNA small nucleolar RNAs that guide methylation or pseudouridylation of rRNAs and other small nuclear RNAs (snRNA)
SNP single nucleotide polymorphism
snRNA small nuclear RNAs
SNRPN small nuclear ribonuclear protein N; found in the imprinted region of chromosome 15 associated with PWS
SNURF SNRPN upstream reading frame; found in the imprinted region of chromosome 15 associated with PWS
SOAT1 sterol O-acyltransferase 1; originally identified as acyl-cholesterol: acyltranferase 1, ACAT1
SOAT2 sterol O-acyltransferase 2; originally identified as acyl-cholesterol: acyltranferase 2, ACAT2
SOCS suppressor of cytokine signaling
SPC sphingosylphosphorylcholine
SR sarcoplasmic reticulum
SRC archetypal tyrosine kinase first identified in avian sarcoma virus: pronounced "sark"
SRD5A2 gene symbol for 5α-reductase type 2
SREBP sterol-response element binding protein
SRP signal recognition particle
SRSA slow-reacting substance of anaphylaxis
SSCP single-strand conformational polymorphism
SSD sterol sensing domain
SSRI selective serotonin reuptake inhibitor
StAR steroidogenic acute regulatory protein; rate-limiting enzyme of steroidogenesis
STAT signal transducers and activators of transcription
STK11 serine-threonine kinase 11; also known as Peutz-Jaeger syndrome gene and LKB1; is a kinase that phosphorylates AMPK and AMPK-related kinases
STRAD Ste20-related adaptor
SULT2A1 sulfotransferase; enzyme adds sulfur to DHEA generating DHEA sulfate (DHEA-S)
SUR sulfonylurea receptor; also called ABCC8 which is a component of the K+-ATP channel involved in insulin secretion from pancreas
SWI switching of mating type, chromosome remodeling complex protein

T    top

 
T3 triiodothyronine
T4 thyroxine
TAG: TG triacylglyceride; triglyceride; triacylglycerol
TAK1 transforming growth factor-β-activated kinase 1
TAT tyrosine aminotransferase
TBP TATA-box binding protein
TCF7L2 transcription factor 7-like 2 [T-cell specific HMG-box]: polymorphisms associate with increased diabetes risk: 1 of 4 TCF proteins involved in Wnt signaling
TCR T-cell antigen receptor
TEL telomere
TFII transcription factors that regulate the activity of RNA polymerase II
TFM testicular feminization syndrome
TFPI tissue factor pathway inhibitor
TFR1 gene symbol for transferrin receptor 1
TFR2 gene symbol for transferrin receptor 2
TGF transforming growth factor
TGFBR1 gene symbol for transforming growth factor-β1 binding protein
TGF-α transforming growth factor-α
TGF-β transforming growth factor-β
TGR5 transmembrane G-protein coupled bile acid receptor
THF tetrahydrofolate
THP tryptophan hydroxylase
TNDM transient neonatal dibetes mellitus
TNF tumor necrosis factor, α and β
TNF-α tumor necrosis factor-α
TNF-β tumor necrosis factor-β
TORC1 transducer of regulated CREB activity 1
TORC2 transducer of regulated CREB activity 2
tPA tissue plasmogen activator
TPP thiamine pyrophosphate
TPR tetratricopeptide repeat domains, functional domains found in OGT (OGlcNAc transferase
TRH or TRF thyrotropin-releasing hormone (factor)
tRNA transfer RNA
TSAb thyroid stimulating autoantibodies; bind to TSH receptor mimicking TSH action, leads to hyperthyroidism of Graves disease
Tsc1 and Tsc2 tuberous sclerosis tumor suppressor proteins, Tsc1 = hamartin, Tsc2 = tuberin
TSH thyroid-stimulating hormone
TX thromboxane
TZD thiazolidinedione

U    top

 
UBE3A gene symbol for ubiquitin ligase E3A; found in the imprinted region of chromosome 15 associated with AS
UCD urea cycle disorder
UCP1 uncoupling protein 1, also called thermogenin
UGT UDP-glucuronyl transferase
UIM ubiquitin interacting motif
UPD uniparental disomy
UROD gene symbol for uroporphyrinogen decarboxylase
UROS gene symbol for uroporphyrinogen III synthase
UTR untranslated region; includes both 5'-UTR and 3'-UTR

V    top

 
VCAM vascular cell adhesion molecule
VDR vitamin D receptor
VEGF vascular endothelial growth factor
VHL von-Hippel-Lindau syndrome
VIP vasoactive intestinal peptide
VLACSR very long-chain acyl-CoA synthetase-related protein; also known as very long-chain acyl-CoA synthetase homolog 2 (VLCSH2); also known as fatty acid transport protein 5 (FATP5)
VLCAD very long chain acylCoA dehydrogenase
VLCFA very long-chain fatty acid
VLCS very long-chain acyl-CoA synthetase; also known as fatty acid transport protein 2 (FATP2)
VLCSH1 very long-chain acyl-CoA synthetase homolog 1; also known as fatty acid transport protein 6 (FATP6)
VLCSH2 very long-chain acyl-CoA synthetase homolog 2; also known as very long-chain acyl-CoA synthetase-related protein (VLACSR); also known as fatty acid transport protein 5 (FATP5)
VLDL very low density lipoprotein
VMN ventromedial nucleus; hypothalamic region involved in satiety (sensation of being full)
VNTR variable number tandem repeat
VP variegate porphyria
VSGP vertical supranuclear gaze palsy
VWD von Willebrand disease
vWF von Willebrand factor

W    top

 
WAT white adipose tissue
Wnt family of proteins whose name is derived from an amalgam of wingless and int; wingless is a fruit fly gene essential for segment pattern and int refers to a hot-spot for virus integration in the mouse
WT1 Wilms tumor gene

X

 
X-ALD X-linked adrenoleukodystrophy
XLSA X-linked sideroblastic anemia
XP xeroderma pigmentosum

Y

 
YAC yeast artificial chromosome

Z

 
ZWS Zellweger syndrome

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Last modified: December 20, 2016