3g0u

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[[Image:3g0u.png|left|200px]]
 
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{{STRUCTURE_3g0u| PDB=3g0u | SCENE= }}
{{STRUCTURE_3g0u| PDB=3g0u | SCENE= }}
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===Human dihydroorotate dehydrogenase in complex with a leflunomide derivative inhibitor 4===
===Human dihydroorotate dehydrogenase in complex with a leflunomide derivative inhibitor 4===
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{{ABSTRACT_PUBMED_19351152}}
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{{ABSTRACT_PUBMED_19351152}}
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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:019351152</ref><references group="xtra"/>
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<ref group="xtra">PMID:019351152</ref><references group="xtra"/><references/>
[[Category: Dihydroorotate oxidase]]
[[Category: Dihydroorotate oxidase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 03:05, 25 March 2013

Template:STRUCTURE 3g0u

Contents

Human dihydroorotate dehydrogenase in complex with a leflunomide derivative inhibitor 4

Template:ABSTRACT PUBMED 19351152

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

3g0u is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Davies M, Heikkila T, McConkey GA, Fishwick CW, Parsons MR, Johnson AP. Structure-based design, synthesis, and characterization of inhibitors of human and Plasmodium falciparum dihydroorotate dehydrogenases. J Med Chem. 2009 May 14;52(9):2683-93. PMID:19351152 doi:10.1021/jm800963t
  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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