Article
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Journal of child neurology - 1 Jun 2006
Coenen Marieke J H, Smeitink Jan A M, Pots Jeanette M, van Kaauwen Edwin, Trijbels Frans J M, Hol Frans A, van den Heuvel Lambert P
Abstract excerpt
The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear genome. Patients with an isolated complex IV deficiency frequently harbor mutations in nuclear genes encoding for proteins necessary for the assembly of the complex....
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