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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

COX15  -  cytochrome c oxidase assembly homolog 15...

Homo sapiens

Synonyms: Cytochrome c oxidase assembly protein COX15 homolog
 
 
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Disease relevance of COX15

 

High impact information on COX15

  • Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy [2].
  • Mutation analysis of COX15 in the patient identified a missense mutation (C700T) on one allele, changing a conserved arginine to tryptophan (R217W), and a splice-site mutation in intron 3 on the other allele (C447-3G), resulting in a deletion of exon 4 [2].
  • Cox15p is essential for the biogenesis of cytochrome oxidase [Glerum et al., J. Biol. Chem. 272 (1997) 19088-19094] [3].
  • Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency [4].

References

  1. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. Oquendo, C.E., Antonicka, H., Shoubridge, E.A., Reardon, W., Brown, G.K. J. Med. Genet. (2004) [Pubmed]
  2. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Antonicka, H., Mattman, A., Carlson, C.G., Glerum, D.M., Hoffbuhr, K.C., Leary, S.C., Kennaway, N.G., Shoubridge, E.A. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Involvement of mitochondrial ferredoxin and Cox15p in hydroxylation of heme O. Barros, M.H., Carlson, C.G., Glerum, D.M., Tzagoloff, A. FEBS Lett. (2001) [Pubmed]
  4. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. Bugiani, M., Tiranti, V., Farina, L., Uziel, G., Zeviani, M. J. Med. Genet. (2005) [Pubmed]
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