2qcd

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[[Image:2qcd.png|left|200px]]
 
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{{STRUCTURE_2qcd| PDB=2qcd | SCENE= }}
{{STRUCTURE_2qcd| PDB=2qcd | SCENE= }}
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===Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase bound to UMP===
===Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase bound to UMP===
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{{ABSTRACT_PUBMED_18184586}}
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{{ABSTRACT_PUBMED_18184586}}
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==Disease==
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[[http://www.uniprot.org/uniprot/PYR5_HUMAN PYR5_HUMAN]] Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:[http://omim.org/entry/258900 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.<ref>PMID:9042911</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:018184586</ref><references group="xtra"/>
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<ref group="xtra">PMID:018184586</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Orotidine-5'-phosphate decarboxylase]]
[[Category: Orotidine-5'-phosphate decarboxylase]]

Revision as of 20:50, 24 March 2013

Template:STRUCTURE 2qcd

Contents

Crystal structure of the orotidine-5'-monophosphate decarboxylase domain of human UMP synthase bound to UMP

Template:ABSTRACT PUBMED 18184586

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

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

See Also

Reference

  • Wittmann JG, Heinrich D, Gasow K, Frey A, Diederichsen U, Rudolph MG. Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. Structure. 2008 Jan;16(1):82-92. PMID:18184586 doi:http://dx.doi.org/10.1016/j.str.2007.10.020
  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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