4igh
From Proteopedia
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- | + | {{STRUCTURE_4igh| PDB=4igh | SCENE= }} | |
+ | ===High resolution crystal structure of human dihydroorotate dehydrogenase bound with 4-quinoline carboxylic acid analog=== | ||
+ | {{ABSTRACT_PUBMED_23930152}} | ||
- | + | ==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== | |
+ | [[4igh]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IGH OCA]. | ||
+ | |||
+ | ==Reference== | ||
+ | <ref group="xtra">PMID:023930152</ref><references group="xtra"/><references/> | ||
+ | [[Category: Homo sapiens]] | ||
+ | [[Category: Brabander, J K.De.]] | ||
+ | [[Category: Das, P.]] | ||
+ | [[Category: Deng, X.]] | ||
+ | [[Category: Fontoura, B M.A.]] | ||
+ | [[Category: Phillips, M A.]] | ||
+ | [[Category: Anti-viral]] | ||
+ | [[Category: Dehydrogenase]] | ||
+ | [[Category: Fmn]] | ||
+ | [[Category: Membrane]] | ||
+ | [[Category: Oxidoreductase-oxidoreductase inhibitor complex]] | ||
+ | [[Category: Quinoline-4-carboxylic acid]] | ||
+ | [[Category: Redox]] |
Revision as of 08:27, 21 August 2013
Contents |
High resolution crystal structure of human dihydroorotate dehydrogenase bound with 4-quinoline carboxylic acid analog
Template:ABSTRACT PUBMED 23930152
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
4igh is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Das P, Deng X, Zhang L, Roth MG, Fontoura BM, Phillips MA, De Brabander JK. SAR Based Optimization of a 4-Quinoline Carboxylic Acid Analog with Potent Anti-Viral Activity. ACS Med Chem Lett. 2013 Jun 13;4(6):517-521. PMID:23930152 doi:10.1021/ml300464h
- ↑ 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