Disease-gene associations mined from literature

Literature associating COX17 and X-linked distal spinal muscular atrophy 3

COX17 [ENSP00000261070]

COX17 cytochrome c oxidase copper chaperone; Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX (By similarity); Mitochondrial respiratory chain complex assembly factors

Synonyms:  COX17,  COX17p,  hCOX17,  C9J8T6,  Q14061 ...

Linkouts:  STRING  Pharos  UniProt  OMIM