3zws

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[[Image:3zws.png|left|200px]]
 
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{{STRUCTURE_3zws| PDB=3zws | SCENE= }}
{{STRUCTURE_3zws| PDB=3zws | SCENE= }}
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===Structure of Human Dihydroorotate Dehydrogenase with a Bound Inhibitor===
===Structure of Human Dihydroorotate Dehydrogenase with a Bound Inhibitor===
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{{ABSTRACT_PUBMED_22621375}}
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{{ABSTRACT_PUBMED_22621375}}
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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:022621375</ref><references group="xtra"/>
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<ref group="xtra">PMID:022621375</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Acklam, P A.]]
[[Category: Acklam, P A.]]
[[Category: Parsons, M R.]]
[[Category: Parsons, M R.]]
[[Category: Oxidoreductase]]
[[Category: Oxidoreductase]]

Revision as of 16:30, 24 March 2013

Template:STRUCTURE 3zws

Contents

Structure of Human Dihydroorotate Dehydrogenase with a Bound Inhibitor

Template:ABSTRACT PUBMED 22621375

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

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

Reference

  • Bedingfield PT, Cowen D, Acklam P, Cunningham F, Parsons MR, McConkey GA, Fishwick CW, Johnson AP. Factors Influencing the Specificity of Inhibitor Binding to the Human and Malaria Parasite Dihydroorotate Dehydrogenases. J Med Chem. 2012 Jun 15. PMID:22621375 doi:10.1021/jm300157n
  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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