Abbreviations Used in The Medical Biochemistry Page

2-AG

2-arachidonoylglycerol, an endocannabinoid

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

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

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

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

adrenoleukodystrophy

ALDH

aldehyde dehydrogenase; involved in acetaldehyde metabolism, two types in humans: ALDH1A1 and ALDH2

ALT: SGPT

alanine transaminase: serum glutamate pyruvate transaminase

ALG1

ALG2

ALG3

ALG6

ALG8

ALG9

ALG12

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

argininisuccinate synthetase

ASBT

apical sodium-dependent bile salt transporter

ASM

gene symbol for acid sphingomyelinase

ASAH

gene symbol for acid ceramidase

ASD

argininisuccinate synthetase deficiency

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

ATP2A2

ATP2A3

ATX

autotaxin: same as lysophospholipase D (lysoPLD) which is an ecto-nucleotide phosphodiesterase

ATXN1

gene symbol for ataxin-1; expansion of a CAG trinucleotide repeat in this gene causes spinocerebellar ataxia 1, SCA1

ATXN2

gene symbol for ataxin-2; expansion of a CAG trinucleotide repeat in this gene causes spinocerebellar ataxia 2, SCA2

ATXN3

gene symbol for ataxin-3; expansion of a CAG trinucleotide repeat in the this gene causes spinocerebellar ataxia 3, SCA3; SCA3 also known as Machado-Joseph disease, MJD

ATXN7

gene symbol for ataxin-7; expansion of a CAG trinucleotide repeat in this gene causes spinocerebellar ataxia 7, SCA7

ATXN8OS

gene symbol for ataxin-8 opposite strand lncRNA; expansion of a CTG trinucleotide repeat in this gene causes spinocerebellar ataxia 8, SCA8

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

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

bHLH

basic helix-loop-helix domain

BLT1 and BLT2

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 Bernard-Soulier syndrome; also referred to as giant platelet syndrome

BUN

blood urea nitrogen

BWS

Beckwith-Wiedemann syndrome

CaCM

calcium calmodulin

CAH

congenital adrenal hyperplasia

CAK

CDK-activating kinase

CAMK1

CaMKKβ

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

CDKN1C

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

COMP

cartilage oligomeric matrix protein; also referred to as thrombospondin 5 (TSP5)

COPI

coatamer protein coat-complex I

COPII

coatamer protein coat-complex II

CoQ

coenzyme Q; ubiquinone

COX1

cyclooxygenase 1

COX2

cyclooxygenase 2

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 1 (CPS) deficiency

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

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 colorectal carcinoma; tumor suppressor gene

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

dystophia myotonica 1; more commonly called myotonic dystrophy type 1

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

DSI

depolarization-induced suppression of inhibition; a term relating to neurochemical transmission in the CNS

DTT

dithiothreitol

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 porphyria

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

F8

gene symbol for coagulation factor VIII gene

F9

gene symbol for coagulation factor IX gene

F10

gene symbol for coagulation factor X gene

F11

gene symbol for coagulation factor XI gene

F12

gene symbol for coagulation factor XII gene

F13

gene symbol for coagulation 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

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

gene symbol for fragile X messenger ribonucleoprotein 1; trinucleotide repeat in this gene cause fragile X syndrome

FMR2

alternative gene symbol for FRAXE gene

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

G0S2

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

GATA1 - GATA6

family of transcription factors defined by the presence of the consensus sequence WGATAR (W = T or A; R = G or A)

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 Megakarocytic lineage 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

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 coproporphyria

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

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

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; more commonly termed type 1 diabetes

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-IF are leukocyte-derived, β-IF are fibroblast-derived, γ-IF are lymphocyte derived

INSIG

insulin-induced gene

IP3

inositol-1,4,5-trisphosphate

IRBP

iron response element binding protein

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

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

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

kilodalton

αKGDH

α-ketoglutarate dehydrogenase

KHK

ketohexokinase; two isoforms KHK-A and KHK-C, phosphorylate fructose

Kir6.2

same as KCNJ11

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

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

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 of 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"

nicotinamide adenine dinucleotide

nicotinamide adenine dinucleotide phosphate

NAE

N-acylethanolamine

NAGLU

gene symbol for α-N-acetylglucosaminidase

NALD

Neonatal adrenoleukodystrophy

NAM

nicotinamide

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

NFκB

nuclear factor kappa B

NGF

nerve growth factor

NGFR

nerve growth factor receptor

NIDDM

non-insulin-dependent diabetes mellitus; more commonly termed type 2 diabetes

NMDA

ionotropic glutamate receptor subtype originally shown to be activated by N-methyl-D-aspartate

NMN

nicotinamide mononucleotide

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 anti-inflammatory drug

NTCP

NTS

neurotensin

NUAK

nuclear AMPK-related kinase; NUAK1 and NUAK2

OAA

oxaloacetic acid

OATP1B1

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 deficieny

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

PCK1

gene encoding the cytosolic form of phosphoenolpyruvate carboxykinase

PCK2

gene encoding the mitochondrial form of phosphoenolpyruvate carboxykinase

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

Propertiesof 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

PKD

DNA-dependent protein kinase

PKG

cGMP-dependent protein kinase

PKU

phenylketonuria

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

QIK

Qin-induced kinase, more commonly called SIK2 for salt-induced kinase 2

QSK

more commonly called SIK3 for salt-induced kinase 3

R5P

ribose-5-phosphate

RAR

retinoic acid receptor

RB

retinoblastoma

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

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

spinocerabellar ataxia

SCAD

short chain acylCoA dehydrogenase

SCAP

SREBP cleavage-activating protein

SCD

stearoyl-CoA desaturase

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 combine immunodeficiency

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

SERCA2

SERCA3

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

SHC1

gene encoding SHC adapter protein 1; an SH2 domain-containing protein; humans express four SHC adapter proteins (SHC1, SHC2, SHC3, and SHC4)

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