Reactivities: | Human |
Presku: | AAP64966 |
Size: | 100ug |
Weight: | 45kDa |
Gene: | 79944 |
Format: | Lyophilized powder |
Target: | This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. |
Alternative names: | C14orf160; DURANIN; FLJ12618 |