Disease-gene associations mined from literature

Literature associating COX11 and X-linked distal spinal muscular atrophy 3

COX11 [ENSP00000299335]

Cytochrome c oxidase assembly protein COX11, mitochondrial; Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I; Mitochondrial respiratory chain complex assembly factors

Synonyms:  COX11,  COX11p,  hCOX11,  B4DEY8,  B4DI26 ...

Linkouts:  STRING  Pharos  UniProt  OMIM