DHODH Antibody – Rabbit

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]

DHODH: Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS); also known as Miller syndrome. 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. Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.

Protein type: Mitochondrial; EC 1.3.5.2; Nucleotide Metabolism - pyrimidine; Oxidoreductase; Membrane protein, integral

Chromosomal Location of Human Ortholog: 16q22

Cellular Component: nucleoplasm; mitochondrion; cell soma; mitochondrial inner membrane; integral to membrane; intrinsic to mitochondrial inner membrane

Molecular Function: ubiquinone binding; FMN binding; dihydroorotate dehydrogenase activity; drug binding

Biological Process: lactation; response to starvation; response to drug; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; nucleobase, nucleoside and nucleotide metabolic process; positive regulation of apoptosis; pyrimidine nucleoside biosynthetic process; female pregnancy; response to caffeine

Disease: Postaxial Acrofacial Dysostosis