COX10

COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast), also known as COX10, is a human gene.cite web | title = Entrez Gene: COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1352| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1352| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Glerum DM, Tzagoloff A |title=Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 18 |pages= 8452–6 |year= 1994 |pmid= 8078902 |doi=
*cite journal | author=Murakami T, Reiter LT, Lupski JR |title=Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. |journal=Genomics |volume=42 |issue= 1 |pages= 161–4 |year= 1997 |pmid= 9177788 |doi= 10.1006/geno.1997.4711
*cite journal | author=Reiter LT, Murakami T, Koeuth T, "et al." |title=The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1595–603 |year= 1998 |pmid= 9285799 |doi=
*cite journal | author=Kennerson ML, Nassif NT, Dawkins JL, "et al." |title=The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. |journal=Genomics |volume=46 |issue= 1 |pages= 61–9 |year= 1998 |pmid= 9403059 |doi= 10.1006/geno.1997.5012
*cite journal | author=Kennerson ML, Nassif NT, Nicholson GA |title=Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat. |journal=Genomics |volume=53 |issue= 1 |pages= 110–2 |year= 1998 |pmid= 9787083 |doi= 10.1006/geno.1998.5453
*cite journal | author=Valnot I, von Kleist-Retzow JC, Barrientos A, "et al." |title=A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. |journal=Hum. Mol. Genet. |volume=9 |issue= 8 |pages= 1245–9 |year= 2000 |pmid= 10767350 |doi=
*cite journal | author=Bosetti F, Brizzi F, Barogi S, "et al." |title=Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease. |journal=Neurobiol. Aging |volume=23 |issue= 3 |pages= 371–6 |year= 2002 |pmid= 11959398 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Antonicka H, Leary SC, Guercin GH, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=12 |issue= 20 |pages= 2693–702 |year= 2004 |pmid= 12928484 |doi= 10.1093/hmg/ddg284
*cite journal | author=Williams SL, Valnot I, Rustin P, Taanman JW |title=Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. |journal=J. Biol. Chem. |volume=279 |issue= 9 |pages= 7462–9 |year= 2004 |pmid= 14607829 |doi= 10.1074/jbc.M309232200
*cite journal | author=Coenen MJ, van den Heuvel LP, Ugalde C, "et al." |title=Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. |journal=Ann. Neurol. |volume=56 |issue= 4 |pages= 560–4 |year= 2004 |pmid= 15455402 |doi= 10.1002/ana.20229
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Veluthakal R, Kaur H, Goalstone M, Kowluru A |title=Dominant-negative alpha-subunit of farnesyl- and geranyltransferase inhibits glucose-stimulated, but not KCl-stimulated, insulin secretion in INS 832/13 cells. |journal=Diabetes |volume=56 |issue= 1 |pages= 204–10 |year= 2007 |pmid= 17192483 |doi= 10.2337/db06-0668

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