COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene.
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Function
This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].
Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R, Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S, Salviati L (2005). "hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly". Biochem. Biophys. Res. Commun. 337 (3): 832–9. doi:10.1016/j.bbrc.2005.09.127. PMID16212937.
Sacconi S, Salviati L, Trevisson E (2009). "Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency". J. Hum. Genet. 54 (7): 419–21. doi:10.1038/jhg.2009.36. PMID19373256.