Article
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
Biochemical and biophysical research communications - 18 Jul 2008
Casarin Alberto, Jimenez-Ortega Jose Carlos, Trevisson Eva, Pertegato Vanessa, Doimo Mara, Ferrero-Gomez Maria Lara, Abbadi Sara, Artuch Rafael, Quinzii Catarina, Hirano Michio, Basso Giuseppe, Ocaña Carlos Santos, Navas Placido, Salviati Leonardo
Abstract excerpt
Defects in genes involved in coenzyme Q (CoQ) biosynthesis cause primary CoQ deficiency, a severe multisystem disorders presenting as progressive encephalomyopathy and nephropathy. The COQ4 gene encodes an essential factor for biosynthesis in Saccharomyces cerevisiae. We have identified and cloned its human ortholog, COQ4, which is located on chromosome 9q34.13, and is transcribed into a 795 base-pair open...
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