Analysis of AGRN Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1272-LGZ)

Introduction

Official Full Name: agrin<br />Also known as: CMS8; AGRIN; CMSPPD<br />The gene encodes one of several proteins critical in the development of the neuromuscular junction (NMJ), found in mouse knockout studies. The encoded protein contains several laminin G, Cajar-type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur by adding glycosaminoglycans and disulfide bonds. A mutation in this gene was found in a family with a congenital myasthenic syndrome affecting the limb-girdle muscles. Alternative splicing results in multiple transcript variants encoding different isoforms.