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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| D2HGDH-20-RE | 20 (40 μL) | 200 μL |  |
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| D2HGDH-20-OR | 20 (40 μL) | 200 μL |  |
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| D2HGDH-20-GO | 20 (40 μL) | 200 μL |  |
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| D2HGDH-20-GR | 20 (40 μL) | 200 μL |  |
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| D2HGDH-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : D2HGDH
Gene Name : D-2-hydroxyglutarate dehydrogenase
Chromosome : CHR 2: 241,734,578-241,768,815
Locus : 2q37.3
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