2wv8

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[[Image:2wv8.png|left|200px]]
 
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{{STRUCTURE_2wv8| PDB=2wv8 | SCENE= }}
{{STRUCTURE_2wv8| PDB=2wv8 | SCENE= }}
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===Complex of human dihydroorotate dehydrogenase with the inhibitor 221290===
===Complex of human dihydroorotate dehydrogenase with the inhibitor 221290===
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{{ABSTRACT_PUBMED_20183850}}
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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.
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(as it appears on PubMed at http://www.pubmed.gov), where 20183850 is the PubMed ID number.
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{{ABSTRACT_PUBMED_20183850}}
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==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:020183850</ref><references group="xtra"/>
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<ref group="xtra">PMID:020183850</ref><references group="xtra"/><references/>
[[Category: Dihydroorotate dehydrogenase]]
[[Category: Dihydroorotate dehydrogenase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 05:00, 25 March 2013

Template:STRUCTURE 2wv8

Contents

Complex of human dihydroorotate dehydrogenase with the inhibitor 221290

Template:ABSTRACT PUBMED 20183850

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

2wv8 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Fritzson I, Svensson B, Al-Karadaghi S, Walse B, Wellmar U, Nilsson UJ, da Graca Thrige D, Jonsson S. Inhibition of human DHODH by 4-hydroxycoumarins, fenamic acids, and N-(alkylcarbonyl)anthranilic acids identified by structure-guided fragment selection. ChemMedChem. 2010 Apr 6;5(4):608-17. PMID:20183850 doi:10.1002/cmdc.200900454
  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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OCA

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