DISEASES

Disease-gene associations mined from literature

Literature associating COX19 and cytochrome-c oxidase deficiency disease

COX19 [ENSP00000342015]

Cytochrome c oxidase assembly protein COX19; Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis . May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity). ; Belongs to the COX19 family.

Synonyms:  COX19,  COX19p,  hCOX19,  F8WEL9,  Q49B96 ...

Linkouts:  STRING  Pharos  UniProt