Aliases for L2HGDH Gene
External Ids for L2HGDH Gene
Previous HGNC Symbols for L2HGDH Gene
Previous GeneCards Identifiers for L2HGDH Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for L2HGDH Gene
L2HGDH (L-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with L2HGDH include L-2-Hydroxyglutaric Aciduria and 2-Hydroxyglutaric Aciduria. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Butanoate metabolism. GO annotations related to this gene include oxidoreductase activity and 2-hydroxyglutarate dehydrogenase activity.