| A | B | C | D | E | F | G | H | I | J | K | L | M | N |
| O | P | Q | R | S | T | U | V | W | X | Y | Z |
1—10 |
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| 2,3BPG | 2,3-bisphosphoglycerate |
| 4EBP1 | translation factor eIF-4E binding protein |
| 5HT | 5-hydroxytryptamine, serotonin |
A |
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| 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 |
B top |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
I top |
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| 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 |
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| JH | juvenile hemochromatosis |
| JNK | JUN N-terminal kinase |
| JUN | a kinase that was originally identified as a retroviral oncogene; JUN is Japanese for five |
K top |
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| 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 |
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| 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 |
M top |
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| 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" |
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| 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 |
O top |
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| 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 |
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| 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 |
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| 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 |
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| 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 associate 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 |
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| 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 |
U top |
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| UBE3A | gene symbol for ubiquitin ligase E3A; found in the imprinted region of chromosome 15 associated with AS |
| UCD | urea cycle disorder |
| UCP1 | uncoupling protein 1, also called thermogenin |
| UGT | UDP-glucuronyl transferase |
| UIM | ubiquitin interacting motif |
| UPD | uniparental disomy |
| UROD | gene symbol for uroporphyrinogen decarboxylase |
| UROS | gene symbol for uroporphyrinogen III synthase |
| UTR | untranslated region; includes both 5'-UTR and 3'-UTR |
V top |
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| 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 |
W top |
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| 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 |
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| X-ALD | X-linked adrenoleukodystrophy |
| XLSA | X-linked sideroblastic anemia |
| XP | xeroderma pigmentosum |
Y |
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| YAC | yeast artificial chromosome |
Z |
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| ZWS | Zellweger syndrome |
Return to The Mobile Medical Biochemistry Page
Michael W. King, Ph.D / IU School of Medicine / miking at iupui.edu