9hy0
From Proteopedia
Jump to navigationJump to search
Variant T321A of Orotidine 5'-monophosphate decarboxylase-domain of human UMPS in complex with the product UMP at 0.95 Angstrom resolution
| ||||||||||||
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 13:04, 10 February 2026.