Analysis of D2HGDH Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1570-LGZ)

Introduction

Official Full Name: D-2-hydroxyglutarate dehydrogenase
Also known as: D2HGD
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.