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Intracellular organelle part

Intracellular organelle part

  • ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ACADVL: acyl-coenzyme A dehydrogenase, very long chain
  • ACAT1: acetyl-Coenzyme A acetyltransferase 1
  • ALAS2: aminolevulinate, delta-, synthase 2
  • ALDH4A1: aldehyde dehydrogenase 4 family, member A1
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOB: apolipoprotein B (including Ag(x) antigen)
  • APP: amyloid beta (A4) precursor protein
  • APTX: aprataxin
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ATM: ataxia telangiectasia mutated
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
  • BARD1: BRCA1 associated RING domain 1
  • BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
  • BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide
  • BCOR: BCL6 co-repressor
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BSCL2: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
  • CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CBS: cystathionine-beta-synthase
  • CHEK2: CHK2 checkpoint homolog (S. pombe)
  • CLIP2: CAP-GLY domain containing linker protein 2
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CPS1: carbamoyl-phosphate synthetase 1, mitochondrial
  • CPT2: carnitine palmitoyltransferase 2
  • CTNS: cystinosis, nephropathic
  • CUL7: cullin 7
  • CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCTN1: dynactin 1 (p150, glued homolog, Drosophila)
  • DCX: doublecortin
  • DHCR7: 7-dehydrocholesterol reductase
  • DLD: dihydrolipoamide dehydrogenase
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • ETFA: electron-transfer-flavoprotein, alpha polypeptide
  • ETFB: electron-transfer-flavoprotein, beta polypeptide
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • EXT1: exostoses (multiple) 1
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • FECH: ferrochelatase (protoporphyria)
  • FH: fumarate hydratase
  • FMR1: fragile X mental retardation 1
  • FTL: ferritin, light polypeptide
  • FXN: frataxin
  • G6PD: glucose-6-phosphate dehydrogenase
  • GAN: gigaxonin
  • GFAP: glial fibrillary acidic protein
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GJB1: gap junction protein, beta 1, 32kDa
  • GJB2: gap junction protein, beta 2, 26kDa
  • GLI3: GLI family zinc finger 3
  • GNAS: GNAS complex locus
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • HADH: hydroxyacyl-Coenzyme A dehydrogenase
  • HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
  • HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
  • HBA2: hemoglobin, alpha 2
  • HCCS: holocytochrome c synthase (cytochrome c heme-lyase)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • IVD: isovaleryl Coenzyme A dehydrogenase
  • JPH3: junctophilin 3
  • KIF1B: kinesin family member 1B
  • KRT14: keratin 14
  • KRT16: keratin 16
  • KRT17: keratin 17
  • KRT5: keratin 5
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LETM1: leucine zipper-EF-hand containing transmembrane protein 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LRRK2: leucine-rich repeat kinase 2
  • MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
  • MED12: mediator complex subunit 12
  • MEFV: Mediterranean fever
  • MEN1: multiple endocrine neoplasia I
  • MFN2: mitofusin 2
  • MID1: midline 1 (Opitz/BBB syndrome)
  • MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
  • MSH6: mutS homolog 6 (E. coli)
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • MT-ND1: mitochondrially encoded NADH dehydrogenase 1
  • MT-ND4: mitochondrially encoded NADH dehydrogenase 4
  • MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L
  • MT-ND5: mitochondrially encoded NADH dehydrogenase 5
  • MT-ND6: mitochondrially encoded NADH dehydrogenase 6
  • MUTYH: mutY homolog (E. coli)
  • MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYO1A: myosin IA
  • MYO6: myosin VI
  • MYO7A: myosin VIIA
  • NAGS: N-acetylglutamate synthase
  • NBN: nibrin
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NEFM: neurofilament, medium polypeptide
  • NF2: neurofibromin 2 (merlin)
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NPC1: Niemann-Pick disease, type C1
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OAT: ornithine aminotransferase (gyrate atrophy)
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OTC: ornithine carbamoyltransferase
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
  • PAX2: paired box 2
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
  • PPOX: protoporphyrinogen oxidase
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PRPH: peripherin
  • PSEN1: presenilin 1
  • 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
  • RPL11: ribosomal protein L11
  • RPL5: ribosomal protein L5
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RPS7: ribosomal protein S7
  • RYR1: ryanodine receptor 1 (skeletal)
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SEPT9: septin 9
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SETX: senataxin
  • SIX1: SIX homeobox 1
  • SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
  • SLC25A13: solute carrier family 25, member 13 (citrin)
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SMAD4: SMAD family member 4
  • SMC1A: structural maintenance of chromosomes 1A
  • SMC3: structural maintenance of chromosomes 3
  • SMN2: survival of motor neuron 2, centromeric
  • SNCAIP: synuclein, alpha interacting protein
  • SOD1: superoxide dismutase 1, soluble
  • SUCLG1: succinate-CoA ligase, alpha subunit
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TBP: TATA box binding protein
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TGFB1: transforming growth factor, beta 1
  • TH: tyrosine hydroxylase
  • TMPRSS3: transmembrane protease, serine 3
  • TP53: tumor protein p53
  • TSC1: tuberous sclerosis 1
  • TTN: titin
  • TYR: tyrosinase (oculocutaneous albinism IA)
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VWF: von Willebrand factor
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WRN: Werner syndrome, RecQ helicase-like

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

 
Published: November 20, 2009