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L2HGDH 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.
Gene Name: | L-2-hydroxyglutarate Dehydrogenase |
Synonyms: | L2HGDH, Alpha-ketoglutarate reductase, C14orf160, Duranin |
Target Sequences: | NM_024884 NP_079160.1 Q9H9P8 |
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