Disease-gene associations mined from literature

Literature associating COA6 and fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency

COA6 [ENSP00000355572]

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 ...

Linkouts:  STRING  Pharos  UniProt