Analysis of GAD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1494-LGZ)

Introduction

Official Full Name: glutamate decarboxylase 1
Also known as: GAD; SCP; CPSQ1; DEE89
This gene encodes one of several forms of glutamate decarboxylase, which is considered the major autoantigen in insulin-dependent diabetes. The encoded enzyme is responsible for catalyzing the production of L-glutamate - GABA. The pathogenic role of this enzyme in the human pancreas has been established as it has been identified as an autoantigen and autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in male stiffness syndrome. A deficiency of this enzyme can lead to dependence on pyridoxine during seizures. Alternative splicing of this gene produces two products, a major 67-kD form and a less common 25-kD form.