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Antibody detects endogenous levels of total D2HGDH.
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.
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蛋白别名: D-2-hydroxyglutarate dehydrogenase, mitochondrial; D2hgdh {ECO:0000250|UniProtKB:Q8N465}; FLJ42195; MGC25181
基因别名: AA408776; AA408778; AI325464; D2HGD; D2HGDH; RGD1307976
UniProt ID: (Human) Q8N5Q8, (Mouse) Q8CIM3, (Rat) P84850
Entrez Gene ID: (Human) 728294, (Mouse) 98314, (Rat) 301624
分子生物学功能:
dehydrogenase
oxidoreductase
metabolite interconversion enzyme