L2hgdh - L-2-hydroxyglutarate dehydrogenase Gene

About L2hgdh

Summary

Predicted to enable (S)-2-hydroxy-acid oxidase activity and 2-hydroxyglutarate dehydrogenase activity. Predicted to be involved in cellular protein metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; liver; telencephalon; and urinary system. Used to study L-2-hydroxyglutaric aciduria. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; cerebellar ataxia; hereditary spastic paraplegia; and visual epilepsy. Orthologous to human L2HGDH (L-2-hydroxyglutarate dehydrogenase). [provided by Alliance of Genome Resources, Apr 2022]