FIGURE: 1 / 1
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: D-2-hydroxyglutarate dehydrogenase, mitochondrial; FLJ42195; MGC25181
Gene Aliases: AA408776; AA408778; AI325464; D2HGD; D2HGDH