The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase.

@article{Paret2000ThePM,
  title={The P(174)L mutation in the human hSCO1 gene affects the assembly of cytochrome c oxidase.},
  author={Claudia Paret and Anja Lode and Udo Krause-Buchholz and Gerhard R{\"o}del},
  journal={Biochemical and biophysical research communications},
  year={2000},
  volume={279 2},
  pages={341-7}
}
Mutations of the yeast SCO1 gene result in impaired COX assembly. Recently, heterozygous mutations in the human homologue hSCO1 have been reported in infants suffering from neonatal ketoacidotic coma and isolated COX deficiency (Valnot et al., 2000). One of the hSCO1 alleles harboured a frame shift mutation resulting in a premature stop codon, the other a missense mutation leading to a substitution of proline(174) by leucine. This position is next to the essential CXXXC motif, which is… CONTINUE READING

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