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 cognitive disability. [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 Metabolism and Butanoate metabolism. GO annotations related to this gene include oxidoreductase activity and 2-hydroxyglutarate dehydrogenase activity.