{"symbol":"D2HGDH","synonyms":["D2HGD"],"name":"D-2-hydroxyglutarate dehydrogenase","description":"This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":728294,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/728294","proteins":[{"symbol":"D2HDH_HUMAN","href":"/api/1.0/protein/D2HDH_HUMAN"}],"hgncRootFamilies":[]}