Automated description from the Alliance of Genome Resources (Release 9.0.0)
Enables (S)-2-hydroxyglutarate dehydrogenase activity. Located in mitochondrion. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; cardiovascular system; 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; and hereditary spastic paraplegia. Orthologous to human L2HGDH (L-2-hydroxyglutarate dehydrogenase).
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