9hw7
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Variant Y432F of Orotidine 5'-monophosphate decarboxylase-domain of human UMPS in resting state at 1.3 Angstrom resolution
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Structural highlights
DiseaseUMPS_HUMAN Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.[1] FunctionReferences | ||||||||||||||||||||
This page was last modified 07:02, 15 July 2026.