This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| L2HGDH-20-RE | 20 (40 μL) | 200 μL |  |
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| L2HGDH-20-OR | 20 (40 μL) | 200 μL |  |
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| L2HGDH-20-GO | 20 (40 μL) | 200 μL |  |
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| L2HGDH-20-GR | 20 (40 μL) | 200 μL |  |
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| L2HGDH-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
Gene Symbol : L2HGDH
Gene Name : L-2-hydroxyglutarate dehydrogenase
Chromosome : CHR 14: 503,122,34-502,424,33
Locus : 14q21.3
Alt. Genes : PREB
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