DISEASES

Disease-gene associations mined from literature

Literature associating COX17 and metal metabolism disorder

COX17 [ENSP00000261070]

Cytochrome c oxidase copper chaperone; Copper metallochaperone essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Binds two copper ions and delivers them to the metallochaperone SCO1 which transports the copper ions to the Cu(A) site on the cytochrome c oxidase subunit II (MT-CO2/COX2).

Synonyms:  COX17,  COX17p,  hCOX17,  C9J8T6,  H7C4E5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM