Entrez gene ID | | 728294 |
Official gene symbol | | D2HGDH |
Full name | | D-2-hydroxyglutarate dehydrogenase |
Aliases | | ,D2HGD,FLJ42195,MGC25181, |
Gene summary | | 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] |
Location | | Chromosome: 2 Locus: 2q37.3 |
Gene position | | 242674030 - 242708231 Map Viewer |
Gene orientation | | plus |
Gene size | | 34202 bp |
Gene sequence |
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OMIM ID | | 609186 |
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