D2HGDH, Official Symbol D2HGDHprovided by HGNC Official Full Name D-2-hydroxyglutarate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:28358 See related Ensembl:ENSG00000180902 MIM:609186; AllianceGenome:HGNC:28358 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as D2HGD Summary 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] Expression Ubiquitous expression in skin (RPKM 9.9), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all