This gene encodes L-2-hydroxyglutarate dehydrogenase, anFAD-dependent enzyme that oxidizes L-2-hydroxyglutarate tonalpha-ketoglutarate in a variety of mammalian tissues. Mutations innthis gene cause L-2-hydroxyglutaric aciduria, a rare autosomalnrecessive neurometabolic disorder resulting in moderate to severenmental retardation.
应用类型
WB
免疫原
This L2HGDH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 132-159 amino acids from the Central region of human L2HGDH.
