Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

@article{LpezMartn2007MissenseMO,
  title={Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.},
  author={Jos{\'e} Mar{\'i}a L{\'o}pez-Mart{\'i}n and Leonardo Salviati and Eva Trevisson and Giovanni Montini and Salvatore Dimauro and Caterina M Quinzii and Michio Hirano and Aa. Rodr{\'i}guez-Hern{\'a}ndez and Mario D Cordero and Jos{\'e} A S{\'a}nchez-Alc{\'a}zar and Carlos Santos-Oca{\~n}a and Pl{\'a}cido Navas},
  journal={Human molecular genetics},
  year={2007},
  volume={16 9},
  pages={
          1091-7
        }
}
Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes that respond to CoQ(10) supplementation. In two siblings with encephalomyopathy, nephropathy and severe CoQ(10) deficiency, a homozygous mutation was identified in the CoQ(10) biosynthesis gene COQ2, encoding polyprenyl-pHB transferase. To confirm the pathogenicity of this mutation, we have demonstrated that human wild-type, but not mutant COQ2, functionally complements COQ2 defective yeast… CONTINUE READING

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