Full name: cytochrome c oxidase subunit 6B1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: COX6B; COXG; COXVIb1; MC4DN7

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, Jan 2010]

Expression: Ubiquitous expression in heart (RPKM 214.0), colon (RPKM 139.3) and 25 other tissues

Gene size: 10460bp

Exon count: 4