Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

J Med Genet

Clinical Biochemistry Department, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.

Published: June 2009

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 disruption of an alpha-helix in the N-terminus, would alter its properties and therefore, its function. The p.R450C change would render impossible any interaction between urocanase and its substrate and would loss its enzyme activity. Consequently, these studies suggest that both mutations could alter the correct activity of urocanase, which would explain the clinical and biochemical findings described in this patient.

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2008.060632DOI Listing

Publication Analysis

Top Keywords

urocanic aciduria
8
uroc1 gene
8
enzyme activity
8
mutations
4
mutations urocanase
4
urocanase gene
4
gene uroc1
4
uroc1 associated
4
associated urocanic
4
aciduria urocanase
4

Similar Publications

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.

J Med Genet

June 2009

Clinical Biochemistry Department, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.

Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!