Analysis of GLUD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2070-LGZ)

Introduction

Official Full Name: glutamate dehydrogenase 1<br />Also known as: GDH; GDH1; GLUD; hGDH1<br />This gene encodes glutamate dehydrogenase, a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme plays an important role in regulating amino acid-induced insulin secretion. It is activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinemia. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X chromosome originates from this gene by retrotransposition and encodes a soluble form of glutamate dehydrogenase. Associated pseudogenes were identified on chromosomes 10, 18 and X.