KEGG   VARIANT: 1352v1
Entry
1352v1                      Variant                                
Name
COX10 mutation
Gene
COX10  cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [KO:K02257]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602125
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:10767350
  Authors
Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A
  Title
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
  Journal
Hum Mol Genet 9:1245-9 (2000)
DOI:10.1093/hmg/9.8.1245
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