Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for D2HGDH (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID728294
Official gene symbolD2HGDH
Full nameD-2-hydroxyglutarate dehydrogenase
Aliases,D2HGD,FLJ42195,MGC25181,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q37.3
Gene position242674030 - 242708231  Map Viewer
Gene orientationplus
Gene size34202 bp
Gene sequence
OMIM ID609186