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l2hgdh

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Official Full Name
L-2-hydroxyglutarate dehydrogenase
Background
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.
Synonyms
L2HGDH; L-2-hydroxyglutarate dehydrogenase; C14orf160, chromosome 14 open reading frame 160; L-2-hydroxyglutarate dehydrogenase, mitochondrial; 2 hydroxyglutarate dehydrogenase; FLJ12618; mitochondrial; C14orf160; Duranin; L2HDH_HUMAN; OTTHUMP00000178967; OTTHUMP00000178968; OTTHUMP00000244606; alpha-ketoglutarate reductase; 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; L-alpha-hydroxyglutarate dehydrogenase; si:ch211-67f24.10

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