Dihydroorotate Dehydrogenase (DHODH)

Dihydroorotate dehydrogenase (EC 1.3.3.1) catalyzes the fourth enzymatic step in de novo pyrimidine biosynthesis. Minet et al. (1992) isolated a truncated human cDNA encoding this enzyme from a HeLa cell cDNA library by functional complementation of a corresponding deletion mutant from the Saccharomyces cerevisiae. The gene in yeast is symbolized ura1. DHO dehydrogenase is a monofunctional protein which, in most eukaryotic organisms, is located on the outer surface of the inner mitochondrial membrane. In yeast, however, it has a cytosolic location.

Missense mutations of the DHODH gene cause Miller syndrome, an autosomal recessive disorder also known as postaxial acrofacial dysostosis.