1—10 |
|
|
2,3BPG |
2,3-bisphosphoglycerate |
|
4EBP1 |
translation factor eIF-4E binding protein |
|
5HT |
5-hydroxytryptamine, serotonin |
|
|
|
|
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 |
|
ABP |
androgen binding protein |
|
ACADM |
gene symbol for acyl-CoA dehydrogenase, medium-chain; protein is also known as medium-chain acyl-CoA dehydrogenase, MCAD |
|
ACAT |
acyl-CoA: cholesterol acyltransferase |
|
ACC |
acetyl-CoA carboxylase |
|
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 |
|
ACP |
acyl-carrier protein |
|
ACTH |
adrenocorticotropic hormone |
|
ADA |
adenosine deaminase |
|
ADD1 |
adipocyte differentiation 1; also called SREBP-1c |
|
ADH |
alcohol dehydrogenase |
|
ADH |
antidiuretic hormone |
|
AdoMet |
S-adenosylmethionine |
|
ADP |
ALA dehydratase deficient porphyria |
|
AGA |
gene symbol for N-aspartyl-β-glucosaminidase |
|
AGL |
gene symbol for amylo-1,6-glucosidase; also called glycogen debranching enzyme, GDE |
|
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 |
|
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 |
|
AMPK |
AMP-activated protein kinase |
|
ANP |
atrial natriuretic peptide; sometimes 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 |
|
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 |
|
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 |
|
ATL |
aspirin-triggered lipoxin |
|
AT |
ataxia telangiectasia |
|
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, cardiac muscle, fast twitch; also called sarco/endoplasmic-reticulum calcium ATPase (SERCA1) |
|
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 |
|
|
|
|
B4GALT1 |
gene symbol for β-1,4-galactosyltransferase |
|
BCAA |
branched-chain amino acid |
|
BCKD |
branched-chain 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 phosphaorylation |
|
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 naturietic 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 |
|
|
|
|
CaCM |
calcium calmodulin |
|
CAH |
congenital adrenal hyperplasia |
|
CAK |
CDK-activating kinase |
|
CaMKKβ |
Ca2+-calmodulin-dependent kinase kinase-β |
|
cAMP |
cyclic AMP |
|
CAPN10 |
calpain 10: polymorphisms associate with increased diabetes risk |
|
CAR |
constitutive androstane receptor |
|
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 |
|
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 |
|
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 |
|
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 I
and 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 bile acid synthesis |
|
CYP8B1 |
sterol 12α-hydroxylase |
|
CYP11A1 |
P450 side-chain cleavage enzyme, also called desmolase, cholesterol
desmolase, 20,22 desmolase |
|
CYP11B1 |
11β-hydroxylase, also called P450c11 |
|
CYP11B2 |
aldosterone synthase, also 18α-hydroxylase or P450c18 |
|
CYP17A1 |
has 2 activities: 17α-hydroxylase and 17,20-lyase, also called
P450c17 |
|
CYP19A1 |
aromatase, also called estrogen synthetase |
|
CYP21A2 |
21-hydroxylase; also called CYP21, CYP21B or P450c21 |
|
CysLT1 and CysLT2 |
receptors for peptidoleukotrienes which are also called cysteinyl
leukotrienes |
|
|
|
|
D5W |
dextrose 5% water |
|
DAF: CD55 |
decay accelerating factor |
|
DAG |
diacylglycerol |
|
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 |
|
DLD |
gene symbol for E3 subunit of branched-chain ketoacid dehydrogenase |
|
DM1 |
myotonic dystrophy; for the Latin dystrophia myotonica |
|
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 |
|
DTT |
dithiothreitol |
|
|
|
|
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 |
|
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 |
|
ERR |
estrogen related receptor |
|
ERT |
enzyme replacement therapy |
|
|
|
|
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 |
|
FADH2 |
flavin adenine dinucleotide |
|
FAP |
familial adenomatous polyposis coli |
|
FAS |
fatty acid synthase |
|
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 causitive agent in feline osteosarcoma |
|
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 I |
glucosidase I |
|
G II |
glucosidase II |
|
G1P |
glucose-1-phosphate |
|
G3P |
glyceraldehyde-3-phosphate |
|
G3PDH |
glyceraldehyde-3-phosphate dehydrogenase |
|
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 |
|
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 |
|
GAP |
GTPase activating protein |
|
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 |
|
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 |
|
GH |
growth hormone, also called somatotropin |
|
GIF |
growth hormone release inhibiting factor, same as somatostatin |
|
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) |
|
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 |
|
GPCR |
G-protein coupled receptor |
|
GPI |
glycosylphosphatidylinositol |
|
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 |
|
GS |
glycogen synthase |
|
GSD |
glycogen storage disease |
|
GSH |
glutathione |
|
GSK3 |
glycogen synthase kinase-3 |
|
GSSG |
oxidized glutathione |
|
GUSB |
gene symbol for β-glucuronidase |
|
|
|
|
H2B and H4B |
dihydro- and tetrahydrobiopterin, also abbreviated BH2 and BH4 |
|
HAMP |
gene symbol for hepcidin |
|
Hap1 |
huntingtin-associated protein 1 |
|
HbA1c |
glycosylated hemoglobin |
|
HbF |
designates fetal hemoglobin |
|
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 |
|
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 |
|
HTLV |
human T-cell leukemia virus |
|
HTT |
gene symbol for huntingtin |
|
|
|
|
IAA |
insulin auto-antibodies: anti-insulin antibodies |
|
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 |
|
IGF1 |
insulin-like growth factor 1 |
|
IGF2 |
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 gene 1; is also called ferroportin, 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 |
|
|
|
|
JH |
juvenile hemochromatosis |
|
JNK |
JUN N-terminal kinase |
|
JUN |
a kinase that was originally identified as a retroviral oncogene; JUN is Japanese for five |
|
|
|
|
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 |
|
Kir6.2 |
same as KCNJ11 |
|
|
|
|
LACI |
lipoprotein-associated coagulation inhibitor |
|
LAD |
leukocyte adhesion deficiency |
|
LCAD |
long chain acylCoA dehydrogenase |
|
LCAT |
lecithin cholesterol acyltransferase |
|
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 |
|
LKB1 |
kinase that phosphorylates AMPK and AMPK-related kinases; also known as
the
Peutz-Jaeger syndrome 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 |
|
LPC |
lysophosphatidylcholine |
|
LPH |
lipotropin |
|
L-PK |
liver isoform of pyruvate kinase |
|
LPL |
lipoprotein lipase |
|
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 |
|
|
|
|
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 |
|
M-CSF |
macrophage colony stimulating factor |
|
MDH |
malate dehydrogenase |
|
MDM2 |
ubiquitin ligase originally isolated from mouse tumorigenic cell line
3T3DM |
|
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 |
|
MFS |
Marfan syndrome |
|
MGAT2 |
gene symbol for UDP-N-acetylglucosamine:α-6-D-mannoside-β-1,2-N-acetylglucosaminyltransferase II (GlcNAc-TII) |
|
mGluR |
metabotropic glutamate receptor |
|
MHC |
major histocompatibility complex |
|
miRNA |
micro RNA |
|
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 |
|
MYC |
proto-oncogene first identified in avian myelocytomatosis virus:
pronounced "mick" |
|
|
|
|
NADH |
nicotinamide adenine dinucleotide |
|
NADPH |
nicotinamide adenine dinucleotide phosphate |
|
NAGLU |
gene symbol for α-N-acetylglucosaminidase |
|
NALD |
neonatal adrenoleukodystrophy |
|
NANA |
N-acetylneuraminic acid: sialic acid |
|
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 |
|
NEU1 |
gene symbol for neuraminidase |
|
NF1 |
neurofibromatosis type-1 susceptibility locus |
|
NGF |
nerve growth factor |
|
NGFR |
nerve growth factor receptor |
|
NIDDM |
non-insulin-dependent diabetes mellitus |
|
NMDA |
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 |
|
NUAK |
nuclear AMPK-related kinase; NUAK1 and NUAK2 |
|
|
|
|
OAA |
oxaloacetic acid |
|
OATP1B1 |
Na+-independent organic anion transporting polypeptide 1B1; gene symbol is SLCO1B1 |
|
ODC |
ornithine decarboxylase |
|
OGT |
O-GlcNAc transferase |
|
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 |
|
|
|
|
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 |
|
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, PAR-4 |
|
PBD |
peroxisome biogenesis disorder |
|
PBG |
porphobilinogen |
|
PBGD |
gene symbol for porphobilinogen deaminase; also known as hydroxymethylbilane synthase, HMBS |
|
PC |
pyruvate carboxylase |
|
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 |
|
PDGF |
platelet-derived growth factor |
|
PDGFR |
platelet-derived growth factor receptor |
|
PDH |
pyruvate dehydrogenase |
|
PDK, PDK1 |
PIP3-dependent
protein kinase |
|
PEP |
phosphoenoylpyruvate |
|
PEPCK |
phosphoenolpyruvate carboxykinase |
|
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 |
|
PGC-1α |
PPARγ coactivator-1α |
|
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 |
|
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 |
|
POMC |
pro-opiomelanocoticotropin |
|
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 |
|
PPARα |
peroxisome proliferator-activated receptor-α |
|
PPARβ/δ |
peroxisome proliferator-activated receptor-β/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 |
|
PR or PGR |
progesterone receptor |
|
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 |
|
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 |
|
|
|
|
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 |
|
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 |
|
|
|
|
S1P |
sphingosine-1-phosphate |
|
S6K |
p70
small ribosomal subunit protein S6 kinase |
|
SAM |
S-adenosylmethionine |
|
SBMA |
spinobulbar muscular atrophy |
|
SCA |
spinocerebellar ataxia |
|
SCAD |
short chain acylCoA dehydrogenase |
|
SCAP |
SREBP cleavage-activating protein |
|
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 |
|
SDH |
succinate dehydrogenase |
|
SDS |
sodium dodecylsulfate |
|
SDS-PAGE |
protein electrophoresis technique where proteins are uniformly
negatively charged by SDS |
|
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 |
a sirtuin family member, is a NAD+-dependent deacetylase |
|
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
disease; 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 |
|
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 |
|
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 |
|
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 |
|
|
|
|
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 |
|
TORC2 |
transducer of regulated CREB activity 2 |
|
tPA |
tissue plasmogen activator |
|
TPP |
thiamine pyrophosphate |
|
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 |
|
|
|
|
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 |
|
|
|
|
VCAM |
vascular cell adhesion molecule |
|
VDR |
vitamin D receptor |
|
VDR |
vitamin D receptor |
|
VEGF |
vascular endothelial growth factor |
|
VHL |
von-Hippel-Lindau syndrome |
|
VIP |
vasoactive intestinal peptide |
|
VLCAD |
very long chain acylCoA dehydrogenase |
|
VLCFA |
very long-chain fatty acid |
|
VLDL |
very low density lipoprotein |
|
VNTR |
variable number tandem repeat |
|
VP |
variegate porphyria |
|
VSGP |
vertical supranuclear gaze palsy |
|
VWD |
von Willebrand disease |
|
vWF |
von Willebrand factor |
|
|
|
|
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-ALD |
X-linked adrenoleukodystrophy |
|
XLSA |
X-linked sideroblastic anemia |
|
XP |
xeroderma pigmentosum |
|
|
|
|
YAC |
yeast artificial chromosome |
|
|
|
|
ZWS |
Zellweger syndrome |
Michael
W. King, Ph.D / IU School of Medicine / miking at iupui.edu
