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EC Number Application Commentary Reference
Show all pathways known for 4.2.1.49Display the word mapDisplay the reaction diagram Show all sequences 4.2.1.49medicine L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity 705076
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