DHODH
Function
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway.
Involvement in disease
Postaxial acrofacial dysostosis
POADS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.
Post-translational modifications
The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
Sequence Similarities
Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
Cellular localization
- Mitochondrion inner membrane
- Single-pass membrane protein
Alternative names
DHOdehase, Dihydroorotate oxidase, DHODH