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MGP000829

UniProt Annotations

Entry Information
Gene Namedihydroorotate dehydrogenase (quinone)
Protein EntryPYRD_HUMAN
UniProt IDQ02127
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity(S)-dihydroorotate + a quinone = orotate + a quinol. {ECO:0000269|PubMed:8925840}.
CofactorName=FMN; Xref=ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:10673429}; Note=Binds 1 FMN per subunit. {ECO:0000269|PubMed:10673429};
DiseasePostaxial 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.
FunctionCatalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
MiscellaneousThe 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}.
PathwayPyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.
PtmThe uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
SimilarityBelongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane {ECO:0000269|PubMed:10727948}; Single-pass membrane protein {ECO:0000269|PubMed:10727948}.
SubunitMonomer. {ECO:0000269|PubMed:10673429, ECO:0000269|PubMed:16480261}.
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