| Gene Symbol | L2HGDH |
| Entrez Gene ID | 79944 |
| Full Name | L-2-hydroxyglutarate dehydrogenase |
| Synonyms | C14orf160,L2HGA |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | L-2-hydroxyglutaric aciduria, 236792 (3) |








































User Manual