L2-Hydroxyglutarate Dehydrogenase (L2HGDH)

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.L2HGDH is expressed in multiple tissues, with strongest expression in brain, followed by testis and muscle. Expression was weaker in lymphocytes, fibroblasts, keratinocytes, and placenta, and weakest in bladder, small intestine, liver, and bone marrow.L2HGDH gene is composed of 10 exons. Mouse and rat orthologs have similar organization.