This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.

WB 1:500 - 1:2000

Recombinant fusion protein containing a sequence corresponding to amino acids 322-521 of human D2HGDH (NP_689996.4).

Store at -20°. Avoid freeze / thaw cycles.