{"symbol":"L2HGDH","synonyms":["L2HGA","C14ORF160"],"name":"L-2-hydroxyglutarate dehydrogenase","description":"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]","ncbiEntrezGeneId":79944,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/79944","proteins":[{"symbol":"L2HDH_HUMAN","href":"/api/1.0/protein/L2HDH_HUMAN"}],"hgncRootFamilies":[]}