Gene: COX6B1

Alternate names for this Gene: COX6B|COXG|COXVIb1|MC4DN7

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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: cytochrome c oxidase subunit 6B1

Type of Gene: protein-coding

rs121909602 in COX6B1 gene and Cytochrome-c Oxidase Deficiency PMID 18499082 2008 Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.