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{{STRUCTURE_4jtt| PDB=4jtt | SCENE= }} | |||
===Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 066=== | |||
==Disease== | |||
[[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> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PYRD_HUMAN PYRD_HUMAN]] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. | |||
==About this Structure== | |||
[[4jtt]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JTT OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Li, H.]] | |||
[[Category: Ren, X.]] | |||
[[Category: Zhu, J.]] | |||
[[Category: Zhu, L.]] | |||
[[Category: Fmn binding]] | |||
[[Category: Mitochondria inner membrane]] | |||
[[Category: Oxidoreductase]] | |||
Revision as of 12:33, 26 March 2014
Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 066Crystal structure of human dihydroorotate dehydrogenase (DHODH) with 066
DiseaseDisease
[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]
FunctionFunction
[PYRD_HUMAN] Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
About this StructureAbout this Structure
4jtt is a 1 chain structure. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ 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