COX6A2

Chr 16AR

cytochrome c oxidase subunit 6A2

Also known as: COX6AH, COXVIAH, COXVIa-M, MC4DN18

NCBI Gene: 1339 ENSG00000156885 UniProt: Q02221 OMIM: 602009

The COX6A2 protein is a structural subunit of cytochrome c oxidase (complex IV) that is specifically expressed in heart and skeletal muscle, where it contributes to the assembly and stabilization of this terminal enzyme in the mitochondrial respiratory chain. Mutations cause autosomal recessive mitochondrial complex IV deficiency, presenting as a multisystem disorder affecting high-energy demanding tissues including muscle, heart, brain, and liver. Clinical manifestations typically include myopathy, cardiomyopathy, developmental delays, and metabolic acidosis with variable age of onset from infancy to childhood.

OMIM ResearchSummary from RefSeq, UniProt

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 polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…