Protoheme IX farnesyltransferase, mitochondrial is an enzyme that in humans is encoded by the COX10gene.
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion.
Reiter LT, Murakami T, Koeuth T, et al. (1998). "The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs". Hum. Mol. Genet.6 (9): 1595–603. doi:10.1093/hmg/6.9.1595. PMID9285799.
Kennerson ML, Nassif NT, Dawkins JL, et al. (1998). "The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene". Genomics46 (1): 61–9. doi:10.1006/geno.1997.5012. PMID9403059.
Kennerson ML, Nassif NT, Nicholson GA (1998). "Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat". Genomics53 (1): 110–2. doi:10.1006/geno.1998.5453. PMID9787083.
Valnot I, von Kleist-Retzow JC, Barrientos A, et al. (2000). "A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency". Hum. Mol. Genet.9 (8): 1245–9. doi:10.1093/hmg/9.8.1245. PMID10767350.
Bosetti F, Brizzi F, Barogi S, et al. (2002). "Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease". Neurobiol. Aging23 (3): 371–6. doi:10.1016/S0197-4580(01)00314-1. PMID11959398.
Antonicka H, Leary SC, Guercin GH, et al. (2004). "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". Hum. Mol. Genet.12 (20): 2693–702. doi:10.1093/hmg/ddg284. PMID12928484.
Williams SL, Valnot I, Rustin P, Taanman JW (2004). "Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1". J. Biol. Chem.279 (9): 7462–9. doi:10.1074/jbc.M309232200. PMID14607829.
Coenen MJ, van den Heuvel LP, Ugalde C, et al. (2004). "Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene". Ann. Neurol.56 (4): 560–4. doi:10.1002/ana.20229. PMID15455402.
Veluthakal R, Kaur H, Goalstone M, Kowluru A (2007). "Dominant-negative alpha-subunit of farnesyl- and geranyltransferase inhibits glucose-stimulated, but not KCl-stimulated, insulin secretion in INS 832/13 cells". Diabetes56 (1): 204–10. doi:10.2337/db06-0668. PMID17192483.