3ewu

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[[Image:3ewu.png|left|200px]]
 
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{{STRUCTURE_3ewu| PDB=3ewu | SCENE= }}
{{STRUCTURE_3ewu| PDB=3ewu | SCENE= }}
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===D312N mutant of human orotidyl-5'-monophosphate decarboxylase in complex with 6-acetyl-UMP, covalent adduct===
===D312N mutant of human orotidyl-5'-monophosphate decarboxylase in complex with 6-acetyl-UMP, covalent adduct===
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{{ABSTRACT_PUBMED_19472232}}
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{{ABSTRACT_PUBMED_19472232}}
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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:019472232</ref><references group="xtra"/>
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<ref group="xtra">PMID:019472232</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Orotidine-5'-phosphate decarboxylase]]
[[Category: Orotidine-5'-phosphate decarboxylase]]

Revision as of 20:42, 24 March 2013

Template:STRUCTURE 3ewu

Contents

D312N mutant of human orotidyl-5'-monophosphate decarboxylase in complex with 6-acetyl-UMP, covalent adduct

Template:ABSTRACT PUBMED 19472232

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

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

See Also

Reference

  • Heinrich D, Diederichsen U, Rudolph MG. Lys314 is a nucleophile in non-classical reactions of orotidine-5'-monophosphate decarboxylase. Chemistry. 2009 Jul 6;15(27):6619-25. PMID:19472232 doi:10.1002/chem.200900397
  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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OCA

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