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Gene : COX10 Homo sapiens

Name  ? cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Cytological Location  17p12
Brief Description  cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Description  Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
  • synonyms:
  • U09466,
  • uc002gof.5,
  • HGNC:2260,
  • COX10,
  • COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast),
  • MC4DN3,
  • OTTHUMG00000058814,
  • heme O synthase,
  • COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor,
  • cytochrome c oxidase assembly homolog 10 (yeast),
  • NM_001303,
  • protoheme IX farnesyltransferase, mitochondrial
  • identifiers:
  • 1352,
  • ENSG00000006695,
  • COX10

Genome feature

Region: gene ? Length: 139174  
Location: 17:14069504-14208677 Cyto location: 17p12


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Disease

1 Diseases

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874 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results