DHODH

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

Full Name

Dihydroorotate Dehydrogenase (Quinone)

Function

Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

Biological Process

de novo' pyrimidine nucleobase biosynthetic process Source: GO_Central
'de novo' UMP biosynthetic process Source: UniProtKB-UniPathway
Female pregnancy Source: Ensembl
Lactation Source: Ensembl
Positive regulation of apoptotic process Source: Ensembl
Pyrimidine nucleoside biosynthetic process Source: Reactome
Pyrimidine ribonucleotide biosynthetic process Source: GO_Central
Regulation of mitochondrial fission Source: Ensembl
Response to caffeine Source: Ensembl
Response to drug Source: Ensembl
Response to L-arginine Source: Ensembl
Response to starvation Source: Ensembl

Cellular Location

Mitochondrion inner membrane

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.

Topology

Mitochondrial matrix: 1-10
Helical: 11-30
Mitochondrial intermembrane: 31-395

PTM

The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.