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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.
AA408776; AA408778; AI325464; D2HGD; D2HGDH; D2hgdh {ECO:0000250; D-2-hydroxyglutarate dehydrogenase; D-2-hydroxyglutarate dehydrogenase, mitochondrial; FLJ42195; LOW QUALITY PROTEIN: D-2-hydroxyglutarate dehydrogenase, mitochondrial; MGC25181; RGD1307976; UniProtKB:Q8N465}
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