Dhodh

Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway.

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.

Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1.

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

Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.

• Mitochondrion inner membrane
• Single-pass membrane protein

DHOdehase, Dihydroorotate oxidase, DHODH

• entrezGene:1723
• omim:126064
• swissprot:Q02127

Proteins

Neuroscience

42867Da