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Gene Review

COX10  -  COX10 heme A:farnesyltransferase...

Homo sapiens

Synonyms: Heme O synthase, Protoheme IX farnesyltransferase, mitochondrial
 
 
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Disease relevance of COX10

 

High impact information on COX10

  • We have created a mouse model with an isolated cytochrome c oxidase (COX) deficiency by disrupting the COX10 gene in skeletal muscle [1].
  • Surprisingly, even though COX activity in COX10 KO muscles was <5% of control muscle at 2.5 months, these muscles were still able to contract at 80-100% of control maximal forces and showed only a 10% increase in fatigability, and no signs of oxidative damage or apoptosis were detected [1].
  • 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 [2].
  • Mutation analysis of COX10 identified four different missense alleles, predicting amino acid substitutions at evolutionarily conserved residues [2].
  • COX10 functions in the first step of the mitochondrial heme A biosynthetic pathway, catalyzing the conversion of protoheme (heme B) to heme O via the farnesylation of a vinyl group at position C2 [2].
 

Biological context of COX10

  • We propose that the distal CMT1A-REP represents the progenitor copy of COX10 exon VI which was duplicated with surrounding intronic sequences during mammalian genome evolution and that the HNPP deletion results in a COX10 null allele [3].
  • Hybridization studies revealed that COX10 spans the distal CMT1A-REP, while the proximal CMT1A-REP contains an isolated COX10 'pseudo-exon'. There is also a COX10 hybridization signal on chromosome 10 which appears to represent a processed pseudogene [3].
  • Analysis of the putative promoter region of the COX10 gene indicates that it lacks conventional TATA and CAAT boxes, but it does have several potential transcription factor-binding sites [4].
  • COX10 spans approximately 135 kb and consists of seven exons [4].
  • Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene [5].
 

Anatomical context of COX10

  • Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause [5].
 

Analytical, diagnostic and therapeutic context of COX10

References

  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Murakami, T., Reiter, L.T., Lupski, J.R. Genomics (1997) [Pubmed]
  5. 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) [Pubmed]
 
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