3w7r

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'''Unreleased structure'''
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{{STRUCTURE_3w7r| PDB=3w7r | SCENE= }}
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===Structure of Human dihydroorotate dehydrogenase in complex with mii-4-097===
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The entry 3w7r 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: Inaoka, D.K., Iida, M., Tabuchi, T., Lee, N., Hashimoto, S., Matsuoka, S., Kuranaga, T., Shiba, T., Sakamoto, K., Suzuki, S., Balogun, E.O., Nara, T., Aoki, T., Inoue, M., Honma, T., Tanaka, A., Harada, S., Kita, K.
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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: Structure of Human dihydroorotate dehydrogenase in complex with mii-4-097
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==About this Structure==
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[[3w7r]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3W7R OCA].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Aoki, T.]]
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[[Category: Balogun, E O.]]
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[[Category: Harada, S.]]
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[[Category: Hashimoto, S.]]
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[[Category: Honma, T.]]
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[[Category: Iida, M.]]
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[[Category: Inaoka, D K.]]
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[[Category: Inoue, M.]]
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[[Category: Kita, K.]]
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[[Category: Kuranaga, T.]]
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[[Category: Lee, N.]]
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[[Category: Matsuoka, S.]]
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[[Category: Nara, T.]]
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[[Category: Sakamoto, K.]]
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[[Category: Shiba, T.]]
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[[Category: Suzuki, S.]]
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[[Category: Tabuchi, T.]]
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[[Category: Tanaka, A.]]
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[[Category: Dihydroorotate/orotate and ubiquinone/ubiquinol]]
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[[Category: Mitochondrial inner membrane]]
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[[Category: Oxidoreductase]]
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[[Category: Oxidoreductase-oxidoreductase inhibitor complex]]
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[[Category: Rossmann fold]]

Revision as of 13:53, 12 March 2014

Template:STRUCTURE 3w7r

Contents

Structure of Human dihydroorotate dehydrogenase in complex with mii-4-097

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

3w7r 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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OCA

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