COX6A2 Chromosome 16
Cytochrome c oxidase subunit 6A2
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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex IV: cytochrome c oxidase subunits
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000156885
Associated Conditions (3)
Mitochondrial complex IV deficiency
nuclear type 18
COX6A2-related disorder
Key Variants
RS1275864234
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 18, Mitochondrial complex IV deficiency
Health Risk
RS140129800
Conflicting classifications of pathogenicity
COX6A2-related disorder, COX6A2-related disorder
Health Risk
RS1597176845
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 18, Mitochondrial complex IV deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1275864234 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 18, Mitochondrial complex IV deficiency |
| RS140129800 | Health Risk | Conflicting classifications of pathogenicity | COX6A2-related disorder, COX6A2-related disorder |
| RS1597176845 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 18, Mitochondrial complex IV deficiency |