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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; Duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase
基因别名: C14orf160; L2HGA; L2HGDH
UniProt ID: (Human) Q9H9P8
Entrez Gene ID: (Human) 79944, (Pig) 100152180