Entrez gene ID | | 1340 |
Official gene symbol | | COX6B1 |
Full name | | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) |
Aliases | | ,COX6B,COXG,COXVIb1, |
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 electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.1 |
Gene position | | 36139125 - 36149686 Map Viewer |
Gene orientation | | plus |
Gene size | | 10562 bp |
Gene sequence |
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OMIM ID | | 124089 |
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