3w7r | pdb_00003w7r
From Proteopedia
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
- ↑ 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
Proteopedia Page Contributors and Editors (what is this?)
Categories:
- Aoki, T.
- Balogun, E O.
- Harada, S.
- Hashimoto, S.
- Honma, T.
- Iida, M.
- Inaoka, D K.
- Inoue, M.
- Kita, K.
- Kuranaga, T.
- Lee, N.
- Matsuoka, S.
- Nara, T.
- Sakamoto, K.
- Shiba, T.
- Suzuki, S.
- Tabuchi, T.
- Tanaka, A.
- Dihydroorotate/orotate and ubiquinone/ubiquinol
- Mitochondrial inner membrane
- Oxidoreductase
- Oxidoreductase-oxidoreductase inhibitor complex
- Rossmann fold
