COX18, cytochrome c oxidase assembly factor explained
COX18, cytochrome c oxidase assembly factor is a protein that in humans is encoded by the COX18 gene.[1]
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].
Further reading
- Sacconi S, Trevisson E, Pistollato F, Baldoin MC, Rezzonico R, Bourget I, Desnuelle C, Tenconi R, Basso G, DiMauro S, Salviati L . hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly . Biochem. Biophys. Res. Commun. . 337 . 3 . 832–9 . 2005 . 16212937 . 10.1016/j.bbrc.2005.09.127 . 11577/2435124 . free .
- Sacconi S, Salviati L, Trevisson E . Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency . J. Hum. Genet. . 54 . 7 . 419–21 . 2009 . 19373256 . 10.1038/jhg.2009.36 . free .
- Karasik D, Hsu YH, Zhou Y, Cupples LA, Kiel DP, Demissie S . Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study . J. Bone Miner. Res. . 25 . 7 . 1555–63 . 2010 . 20200953 . 3153998 . 10.1002/jbmr.38 .
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Mol. Med. . 16 . 7–8 . 247–53 . 2010 . 20379614 . 2896464 . 10.2119/molmed.2009.00159 .
- Zhang X, Yang H, Lee JJ, Kim E, Lippman SM, Khuri FR, Spitz MR, Lotan R, Hong WK, Wu X . MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer . Carcinogenesis . 31 . 12 . 2118–23 . 2010 . 20819778 . 3105587 . 10.1093/carcin/bgq177 .
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ . Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression . PLOS ONE . 5 . 9 . e12862 . 2010 . 20877624 . 2943476 . 10.1371/journal.pone.0012862 . 2010PLoSO...512862H . free .
Notes and References
- Web site: Entrez Gene: COX18, cytochrome c oxidase assembly factor. 2017-12-11.
