Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

  title={Mutations in the urocanase gene UROC1 are associated with urocanic aciduria},
  author={C. Espin{\'o}s and M. Pineda and D. Mart{\'i}nez-Rubio and V. Lupo and A. Ormazabal and M. Vilaseca and L. Spaapen and F. Palau and R. Artuch},
  journal={Journal of Medical Genetics},
  pages={407 - 411}
Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Computed (in silico) predictions, protein expression studies and enzyme activity assays suggest that none of the mutations can produce a fully functional enzyme. The p.L70P substitution, which probably implies the… Expand
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