L2HGDH, Official Symbol L2HGDHprovided by HGNC Official Full Name L-2-hydroxyglutarate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:20499 See related Ensembl:ENSG00000087299 MIM:609584; AllianceGenome:HGNC:20499 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L2HGA; C14orf160 Summary 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] Expression Ubiquitous expression in kidney (RPKM 5.2), fat (RPKM 1.8) and 25 other tissues See more Orthologs mouse all