DHODH est un gène codé par le symbole DHODH. D'autres noms incluent: Dihydroorotate dehydrogenase (quinone), mitochondrial; DHOdehase; Dihydroorotate oxidase. DHODH a une masse de 42.87kDa, une longueur d'acide aminé de 395, et est impliqué dans Postaxial acrofacial dysostosis.
Nous proposons 2 des anticorps contre DHODH, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
Résumé Entrez
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
Modification post-traductionnelle
The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
Localisation cellulaire
Mitochondrion inner membrane.
