Literature associating COA6 and fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae); Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.
Synonyms: COA6, COA6p, hCOA6, Q5JTJ3, X6R5Z6 ...