Reactivities: | Human |
Presku: | AAP66551 |
Size: | 100ug |
Weight: | 55kDa |
Gene: | 728294 |
Format: | Lyophilized powder |
Target: | This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. |
Alternative names: | D2HGD; FLJ42195; MGC25181 |