Gene Review:
COX10 - COX10 heme A:farnesyltransferase...
Homo sapiens
Synonyms:
Heme O synthase, Protoheme IX farnesyltransferase, mitochondrial
- Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency. Diaz, F., Thomas, C.K., Garcia, S., Hernandez, D., Moraes, C.T. Hum. Mol. Genet. (2005)
- Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Antonicka, H., Leary, S.C., Guercin, G.H., Agar, J.N., Horvath, R., Kennaway, N.G., Harding, C.O., Jaksch, M., Shoubridge, E.A. Hum. Mol. Genet. (2003)
- The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Reiter, L.T., Murakami, T., Koeuth, T., Gibbs, R.A., Lupski, J.R. Hum. Mol. Genet. (1997)
- Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Murakami, T., Reiter, L.T., Lupski, J.R. Genomics (1997)
- Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Coenen, M.J., van den Heuvel, L.P., Ugalde, C., Ten Brinke, M., Nijtmans, L.G., Trijbels, F.J., Beblo, S., Maier, E.M., Muntau, A.C., Smeitink, J.A. Ann. Neurol. (2004)