DHODH ist ein Gen, das durch das Symbol DHODH kodiert wird. Andere Namen sind: Dihydroorotate dehydrogenase (quinone), mitochondrial; DHOdehase; Dihydroorotate oxidase. DHODH hat eine Masse von 42.87kDa, eine Aminosäurelänge von 395, und ist an Postaxial acrofacial dysostosis beteiligt.
Wir bieten 2 antikörper gegen DHODH, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Postaxial acrofacial dysostosis: 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.
Sequenzähnlichkeiten
Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
Posttranslationale Modifikation
The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
Zellort
Mitochondrion inner membrane.
