2wv8

From Proteopedia

proteopedia linkproteopedia link

Template:STRUCTURE 2wv8

Contents 1 Complex of human dihydroorotate dehydrogenase with the inhibitor 221290 2 Disease 3 Function 4 About this Structure 5 Reference

Complex of human dihydroorotate dehydrogenase with the inhibitor 221290

Template:ABSTRACT PUBMED 20183850

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

2wv8 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

• Fritzson I, Svensson B, Al-Karadaghi S, Walse B, Wellmar U, Nilsson UJ, da Graca Thrige D, Jonsson S. Inhibition of human DHODH by 4-hydroxycoumarins, fenamic acids, and N-(alkylcarbonyl)anthranilic acids identified by structure-guided fragment selection. ChemMedChem. 2010 Apr 6;5(4):608-17. PMID:20183850 doi:10.1002/cmdc.200900454

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