DISEASES

Disease-gene associations mined from literature

Literature associating COA1 and cytochrome-c oxidase deficiency disease

COA1 [ENSP00000379218]

Cytochrome c oxidase assembly factor 1 homolog; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV.

Synonyms:  COA1,  COA1p,  hCOA1,  A0A024RA60,  C9J6J1 ...

Linkouts:  STRING  Pharos  UniProt