L2HGDH - L-2-hydroxyglutarate dehydrogenase
Enables 2-hydroxyglutarate dehydrogenase activity, forward reaction. Predicted to be located in mitochondrion. Is expressed in adult head and adult heart. 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, Nov 2024]
NCBI Orthologs
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