7oqn
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Human OMPD-domain of UMPS in complex with substrate OMP at 1.10 Angstroms resolution, 30 minutes soaking
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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] FunctionSee AlsoReferences | ||||||||||||||||||||
This page was last modified 12:54, 1 February 2024.