COX6A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human COX6A2 wild-type allele is located in the vicinity of 16p11.2 and is approximately 630 kb in length. This allele, which encodes cytochrome c oxidase subunit 6A2, mitochondrial protein, plays a role in the stabilization of mitochondrial complex IV (COX) in muscle cells. Mutation of the gene is associated with muscle-specific mitochondrial complex IV deficiency nuclear type 18.

**Synonyms:** - COX6AH - COXVIAH - Cytochrome C Oxidase Subunit 6A2 wt Allele - Cytochrome C Oxidase Subunit VIa, Polypeptide 2 Gene - Cytochrome C Oxidase, Subunit 6A2 Gene - MC4DN18