| Entrez gene ID | | 79944 |
| Official gene symbol | | L2HGDH |
| Full name | | L-2-hydroxyglutarate dehydrogenase |
| Aliases | | ,C14orf160,DURANIN,FLJ12618, |
| Gene 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 mental retardation. [provided by RefSeq] |
| Location | | Chromosome: 14 Locus: 14q21.3 |
| Gene position | | 50778947 - 50709152 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 69796 bp |
| Gene sequence |
| |
| OMIM ID | | 609584 |