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3mo7

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Template:STRUCTURE 3mo7

Contents

Crystal structure of human orotidine 5'-monophosphate decarboxylase covalently modified by 2'-fluoro-6-iodo-UMP

Template:ABSTRACT PUBMED 21417464

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

3mo7 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Lewis M, Meza-Avina ME, Wei L, Crandall IE, Bello AM, Poduch E, Liu Y, Paige CJ, Kain KC, Pai EF, Kotra LP. Novel Interactions of Fluorinated Nucleotide Derivatives Targeting Orotidine 5'-Monophosphate Decarboxylase. J Med Chem. 2011 Mar 21. PMID:21417464 doi:10.1021/jm101642g
  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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