3bvj

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Template:STRUCTURE 3bvj

Contents 1 Crystal Structure of Human Orotidine 5'-monophosphate Decarboxylase Complexed with XMP 2 Disease 3 About this Structure 4 See Also 5 Reference

Crystal Structure of Human Orotidine 5'-monophosphate Decarboxylase Complexed with XMP

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

3bvj is a 2 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