3mi2

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Template:STRUCTURE 3mi2

Contents

Crystal structure of human orotidine-5'-monophosphate decarboxylase complexed with pyrazofurin monophosphate

Template:ABSTRACT PUBMED 20452222

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

3mi2 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Meza-Avina ME, Wei L, Liu Y, Poduch E, Bello AM, Mishra RK, Pai EF, Kotra LP. Structural determinants for the inhibitory ligands of orotidine-5'-monophosphate decarboxylase. Bioorg Med Chem. 2010 Jun 1;18(11):4032-41. Epub 2010 Apr 9. PMID:20452222 doi:10.1016/j.bmc.2010.04.017
  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

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