4jts

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'''Unreleased structure'''
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{{STRUCTURE_4jts| PDB=4jts | SCENE= }}
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===Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 072===
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The entry 4jts is ON HOLD until Paper Publication
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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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Authors: Zhu, L.,, Zhu, J.,, Ren, X.,, Li, H.,
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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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Description: Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 072
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==About this Structure==
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[[4jts]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JTS OCA].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Li, H.]]
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[[Category: Ren, X.]]
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[[Category: Zhu, J.]]
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[[Category: Zhu, L.]]
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[[Category: Dhodh]]
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[[Category: Fmn binding]]
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[[Category: Mitochondria inner membrane]]
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[[Category: Oxidoreductase]]

Revision as of 09:32, 26 March 2014

Template:STRUCTURE 4jts

Contents

Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 072

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

4jts is a 1 chain structure. Full crystallographic information is available from OCA.

Reference

  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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