2eaw
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Human UMP Synthase (C-terminal Domain- Orotidine 5'-Monophosphate Decarboxylase)
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Structural highlights
Disease[UMPS_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] Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences | ||||||||||||||||||||
This page was last modified 06:13, 8 February 2016.