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2fpy
From Proteopedia
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| - | [[Image:2fpy.png|left|200px]] | ||
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{{STRUCTURE_2fpy| PDB=2fpy | SCENE= }} | {{STRUCTURE_2fpy| PDB=2fpy | SCENE= }} | ||
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===Dual binding mode of a novel series of DHODH inhibitors=== | ===Dual binding mode of a novel series of DHODH inhibitors=== | ||
| + | {{ABSTRACT_PUBMED_16480261}} | ||
| - | + | ==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> | ||
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| + | ==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== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:016480261</ref><references group="xtra"/> | + | <ref group="xtra">PMID:016480261</ref><references group="xtra"/><references/> |
[[Category: Dihydroorotate oxidase]] | [[Category: Dihydroorotate oxidase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 02:12, 25 March 2013
Contents |
Dual binding mode of a novel series of DHODH inhibitors
Template:ABSTRACT PUBMED 16480261
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
2fpy is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Baumgartner R, Walloschek M, Kralik M, Gotschlich A, Tasler S, Mies J, Leban J. Dual binding mode of a novel series of DHODH inhibitors. J Med Chem. 2006 Feb 23;49(4):1239-47. PMID:16480261 doi:10.1021/jm0506975
- ↑ 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
