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MT000182

UniProt Annotations

Entry Information

Gene Name	dihydroorotate dehydrogenase (quinone)
Protein Entry	PYRD_HUMAN
UniProt ID	Q02127
Species	Human

Comments

Comment type	Description
Catalytic Activity	(S)-dihydroorotate + a quinone = orotate + a quinol. {ECO:0000269\|PubMed:8925840}.
Cofactor	Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence={ECO:0000269\|PubMed:10673429}; Note=Binds 1 FMN per subunit. {ECO:0000269\|PubMed:10673429};
Disease	Postaxial acrofacial dysostosis (POADS) [MIM:263750]: 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. {ECO:0000269\|PubMed:19915526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
Miscellaneous	The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare Mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome. {ECO:0000305\|PubMed:19915526}.
Pathway	Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.
Ptm	The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
Similarity	Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane {ECO:0000269\|PubMed:10727948}; Single-pass membrane protein {ECO:0000269\|PubMed:10727948}.
Subunit	Monomer. {ECO:0000269\|PubMed:10673429, ECO:0000269\|PubMed:16480261}.