2p1f

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Template:STRUCTURE 2p1f

Contents 1 Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase) 2 Disease 3 About this Structure 4 See Also 5 Reference

Human UMP Synthase (C-terminal Domain-Orotidine 5'-Monophosphate Decarboxylase)

Disease

[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 Structure

2p1f is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Uridine 5'-monophosphate synthase

Reference

1. ↑ Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet. 1997 Mar;60(3):525-39. PMID:9042911