Gene Symbol | D2HGDH |
Entrez Gene ID | 728294 |
Full Name | D-2-hydroxyglutarate dehydrogenase |
Synonyms | D2HGD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | D-2-hydroxyglutaric aciduria, 600721 (3) |