Profil protéine

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.

Gene names and symbols associated with L2HGDH

• L-2-hydroxyglutarate dehydrogenase (L2hgdh) anticorps
• L-2-hydroxyglutarate dehydrogenase (L2HGDH) anticorps

• BC016226 anticorps
• C14orf160 anticorps
• RGD1306250 anticorps

Protein level used designations for L2HGDH

L-2-hydroxyglutarate dehydrogenase, mitochondrial , 2-hydroxyglutarate dehydrogenase , L-alpha-hydroxyglutarate dehydrogenase , alpha-hydroxyglutarate oxidoreductase , alpha-ketoglutarate reductase , duranin