DHODH è un gene codificato dal simbolo DHODH. Altri nomi includono: Dihydroorotate dehydrogenase (quinone), mitochondrial; DHOdehase; Dihydroorotate oxidase. DHODH ha una massa di 42.87kDa, una lunghezza di amminoacidi di 395, ed è implicato in Postaxial acrofacial dysostosis.
Offriamo 2 anticorpi contro DHODH, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
Modifica post-translazionale
The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
Posizione cellulare
Mitochondrion inner membrane.
