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Macromolecule metabolic process

Macromolecule metabolic process

  • ACVR1: activin A receptor, type I
  • ACVRL1: activin A receptor type II-like 1
  • ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
  • AGA: aspartylglucosaminidase
  • AIRE: autoimmune regulator
  • ALAS2: aminolevulinate, delta-, synthase 2
  • AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOE: apolipoprotein E
  • APTX: aprataxin
  • ATM: ataxia telangiectasia mutated
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
  • AUH: AU RNA binding protein/enoyl-Coenzyme A hydratase
  • BARD1: BRCA1 associated RING domain 1
  • BCOR: BCL6 co-repressor
  • BLM: Bloom syndrome, RecQ helicase-like
  • BMPR1A: bone morphogenetic protein receptor, type IA
  • BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
  • BRAF: v-raf murine sarcoma viral oncogene homolog B1
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BRIP1: BRCA1 interacting protein C-terminal helicase 1
  • BTK: Bruton agammaglobulinemia tyrosine kinase
  • CD40LG: CD40 ligand
  • CDKL5: cyclin-dependent kinase-like 5
  • CHM: choroideremia (Rab escort protein 1)
  • CHRNA4: cholinergic receptor, nicotinic, alpha 4
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CNBP: CCHC-type zinc finger, nucleic acid binding protein
  • COL1A1: collagen, type I, alpha 1
  • COL3A1: collagen, type III, alpha 1
  • COL5A1: collagen, type V, alpha 1
  • CPS1: carbamoyl-phosphate synthetase 1, mitochondrial
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CUL7: cullin 7
  • D2HGDH: D-2-hydroxyglutarate dehydrogenase
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DNM2: dynamin 2
  • DRD3: dopamine receptor D3
  • EDA: ectodysplasin A
  • EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
  • EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
  • EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
  • EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • EPM2A: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
  • ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • EXT1: exostoses (multiple) 1
  • EXT2: exostoses (multiple) 2
  • EYA1: eyes absent homolog 1 (Drosophila)
  • F12: coagulation factor XII (Hageman factor)
  • F2: coagulation factor II (thrombin)
  • FGFR1: fibroblast growth factor receptor 1
  • FGFR2: fibroblast growth factor receptor 2
  • FLNA: filamin A, alpha
  • FOXL2: forkhead box L2
  • FOXP3: forkhead box P3
  • FUCA1: fucosidase, alpha-L- 1, tissue
  • FXN: frataxin
  • G6PD: glucose-6-phosphate dehydrogenase
  • GALE: UDP-galactose-4-epimerase
  • GNMT: glycine N-methyltransferase
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • HSPB1: heat shock 27kDa protein 1
  • IGF2: insulin-like growth factor 2 (somatomedin A)
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • IL1A: interleukin 1, alpha
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LDLR: low density lipoprotein receptor
  • LIMK1: LIM domain kinase 1
  • LIPA: lipase A, lysosomal acid, cholesterol esterase
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMX1B: LIM homeobox transcription factor 1, beta
  • LRP2: low density lipoprotein-related protein 2
  • LRRK2: leucine-rich repeat kinase 2
  • MAN2B1: mannosidase, alpha, class 2B, member 1
  • MANBA: mannosidase, beta A, lysosomal
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MECP2: methyl CpG binding protein 2 (Rett syndrome)
  • MED12: mediator complex subunit 12
  • MEN1: multiple endocrine neoplasia I
  • MITF: microphthalmia-associated transcription factor
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • MMP20: matrix metallopeptidase 20
  • MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
  • MSH6: mutS homolog 6 (E. coli)
  • MSTN: myostatin
  • MTM1: myotubularin 1
  • MTMR2: myotubularin related protein 2
  • MUTYH: mutY homolog (E. coli)
  • MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • MYO6: myosin VI
  • NBN: nibrin
  • NF2: neurofibromin 2 (merlin)
  • NLRP12: NLR family, pyrin domain containing 12
  • NLRP3: NLR family, pyrin domain containing 3
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOTCH2: Notch homolog 2 (Drosophila)
  • NSD1: nuclear receptor binding SET domain protein 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
  • PAX3: paired box 3
  • PAX8: paired box 8
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PROK2: prokineticin 2
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • PTCH1: patched homolog 1 (Drosophila)
  • PTEN: phosphatase and tensin homolog
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
  • RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
  • RB1: retinoblastoma 1
  • RECQL4: RecQ protein-like 4
  • RET: ret proto-oncogene
  • RPL11: ribosomal protein L11
  • RPL35A: ribosomal protein L35a
  • RPL5: ribosomal protein L5
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RPS7: ribosomal protein S7
  • RUNX2: runt-related transcription factor 2
  • SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SETX: senataxin
  • SHOX: short stature homeobox
  • SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SMAD4: SMAD family member 4
  • SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  • SMC1A: structural maintenance of chromosomes 1A
  • SMN2: survival of motor neuron 2, centromeric
  • SNAI2: snail homolog 2 (Drosophila)
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SOD1: superoxide dismutase 1, soluble
  • SOX2: SRY (sex determining region Y)-box 2
  • SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STK11: serine/threonine kinase 11
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TBP: TATA box binding protein
  • TBX1: T-box 1
  • TBX5: T-box 5
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TGFB1: transforming growth factor, beta 1
  • TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
  • TMPRSS3: transmembrane protease, serine 3
  • TNXB: tenascin XB
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TRAPPC2: trafficking protein particle complex 2
  • TRIOBP: TRIO and F-actin binding protein
  • TRPS1: trichorhinophalangeal syndrome I
  • TSC1: tuberous sclerosis 1
  • TWIST1: twist homolog 1 (Drosophila)
  • TYMP: thymidine phosphorylase
  • UBE3A: ubiquitin protein ligase E3A
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • USP9Y: ubiquitin specific peptidase 9, Y-linked
  • VCP: valosin-containing protein
  • VHL: von Hippel-Lindau tumor suppressor
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • YARS: tyrosyl-tRNA synthetase
  • ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
  • ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference. (June 2009).

 
Published: November 20, 2009