| COX6A2 | |
|---|---|
| Full Name | Cytochrome c Oxidase Subunit VIa Polypeptide 2 |
| Symbol | COX6A2 |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | [1339](https://www.ncbi.nlm.nih.gov/gene/1339) |
| OMIM | [602737](https://www.omim.org/entry/602737) |
| Ensembl ID | [ENSG00000165496](https://ensembl.org/Homo_species/Gene/Summary?g=ENSG00000165496) |
| UniProt ID | [P12074](https://www.uniprot.org/uniprot/P12074) |
| Associated Diseases | [Leigh Syndrome](/diseases/leigh-syndrome), [Mitochondrial Encephalomyopathy](/diseases/mitochondrial-encephalomyopathy), [Hypertrophic Cardiomyopathy](/diseases/hypertrophic-cardiomyopathy) |
COX6A2 (Cytochrome c Oxidase Subunit VIa Polypeptide 2) encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. Complex IV catalyzes the transfer of electrons from cytochrome c to molecular oxygen, forming water, while pumping protons across the inner mitochondrial membrane.
COX6A2 is a nuclear-encoded subunit of the COX6a family, which includes:
COX6A2 contributes to:
COX6A2 mutations cause a severe mitochondrial disorder characterized by bilateral brainstem and basal ganglia lesions, progressive neurodegeneration, and early mortality[1].
Patients present with lactic acidosis, seizures, developmental regression, and exercise intolerance due to impaired oxidative phosphorylation.
COX6A2 deficiency primarily affects high-energy-demand tissues including heart muscle, leading to compensatory hypertrophy.
| Tissue | Expression Level |
|---|---|
| Heart | Very High |
| Skeletal Muscle | Very High |
| Brain | Low-Moderate |
| Liver | Low |
| Kidney | Low |
| Variant | Type | Function | Associated Phenotype |
|---|---|---|---|
| p.Y19H | Missense | Partial loss | Cardiomyopathy |
| p.L41P | Missense | Severe loss | Leigh syndrome |
| c.61delG | Frameshift | Null | Early onset |