Entrez gene ID | | 1337 |
Official gene symbol | | COX6A1 |
Full name | | cytochrome c oxidase subunit VIa polypeptide 1 |
Aliases | | ,COX6A,COX6AL,MGC104500, |
Gene summary | | Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q24.2|12q24.2 |
Gene position | | 120875904 - 120878532 Map Viewer |
Gene orientation | | plus |
Gene size | | 2629 bp |
Gene sequence |
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OMIM ID | | 602072 |
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