background:
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]
Function:
Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.
Subcellular Location:
Mitochondrion inner membrane.
Post-translational modifications:
The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration.
DISEASE:
Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:263750]; 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.
Similarity:
Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
Database links:
Entrez Gene: 1723 Human
Entrez Gene: 533873 Cow
Entrez Gene: 610755 Dog
Entrez Gene: 56749 Mouse
Entrez Gene: 65156 Rat
Entrez Gene: 494065 Zebrafish
Omim: 126064 Human
SwissProt: Q02127 Human
SwissProt: O35435 Mouse
SwissProt: Q63707 Rat
Unigene: 654427 Human
Unigene: 23894 Mouse
Unigene: 81502 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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