DISEASES

Disease-gene associations mined from literature

Literature associating COX18 and Raynaud-Claes syndrome

COX18 [ENSP00000425261]

Cytochrome c oxidase assembly protein COX18, mitochondrial; Mitochondrial membrane insertase required for the translocation of the C-terminus of cytochrome c oxidase subunit II (MT- CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT- CO2/COX2 maturation following the COX20-mediated stabilization of newly synthesized MT-CO2/COX2 protein and before the action of the metallochaperones SCO1/2. Essential for the assembly and stability of the mitochondrial respiratory chain complex IV (also known as cytochrome c oxidase); Belongs to the OXA1/ALB3/YidC family.

Synonyms:  COX18,  COX18p,  hCOX18,  B7ZL88,  Q8N8Q8 ...

Linkouts:  STRING  Pharos  UniProt