2p1f
Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)
DiseaseDisease
[PYR5_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]
About this StructureAbout this Structure
2p1f is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.