| Entrez gene ID | | 1352 |
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| Official gene symbol | | COX10 |
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| Full name | | COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) |
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| Aliases | | ,-, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 17 Locus: 17p12-p11.2 |
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| Gene position | | 13972719 - 14111996 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 139278 bp |
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| Gene sequence |
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