2fpy

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[[Image:2fpy.png|left|200px]]
 
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{{STRUCTURE_2fpy| PDB=2fpy | SCENE= }}
{{STRUCTURE_2fpy| PDB=2fpy | SCENE= }}
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===Dual binding mode of a novel series of DHODH inhibitors===
===Dual binding mode of a novel series of DHODH inhibitors===
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{{ABSTRACT_PUBMED_16480261}}
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{{ABSTRACT_PUBMED_16480261}}
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==Disease==
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[[http://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN]] Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:[http://omim.org/entry/263750 263750]]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.<ref>PMID:19915526</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN]] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:016480261</ref><references group="xtra"/>
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<ref group="xtra">PMID:016480261</ref><references group="xtra"/><references/>
[[Category: Dihydroorotate oxidase]]
[[Category: Dihydroorotate oxidase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 02:12, 25 March 2013

Template:STRUCTURE 2fpy

Contents

Dual binding mode of a novel series of DHODH inhibitors

Template:ABSTRACT PUBMED 16480261

Disease

[PYRD_HUMAN] Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:263750]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.[1]

Function

[PYRD_HUMAN] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

About this Structure

2fpy is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Baumgartner R, Walloschek M, Kralik M, Gotschlich A, Tasler S, Mies J, Leban J. Dual binding mode of a novel series of DHODH inhibitors. J Med Chem. 2006 Feb 23;49(4):1239-47. PMID:16480261 doi:10.1021/jm0506975
  1. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13. PMID:19915526 doi:10.1038/ng.499

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