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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 mental retardation.
2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; BC016226; C14orf160; Duranin; FLJ12618; L2HGA; L2HGDH; L-2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase; RGD1306250
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