Analysis of CHRNG Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1766-LGZ)

Introduction

Official Full Name: cholinergic receptor nicotinic gamma subunit
Also known as: ACHRG
The mammalian muscle acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta subunit, one delta subunit and one epsilon (in adult skeletal muscle) or gamma subunit (in fetuses and denervated muscles). This gene encodes the gamma subunit and is expressed before the 33rd week of gestation in humans. Disruption of the expression of the gamma subunit of the acetylcholine receptor, which plays a role in neuromuscular organogenesis and ligand binding, prevents proper localization of the receptor in the cell membrane. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.