Aliases for D2HGDH Gene
External Ids for D2HGDH Gene
Previous GeneCards Identifiers for D2HGDH Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for D2HGDH Gene
D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with D2HGDH include d-2-hydroxyglutaric aciduria and 2-hydroxyglutaric aciduria. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on CH-OH group of donors.
UniProtKB/Swiss-Prot for D2HGDH Gene
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.