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) |