Analysis of SGCE Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1852-LGZ)

Introduction

Official Full Name: sarcoglycan epsilon<br />Also known as: ESG; DYT11; epsilon-SG<br />This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycan is a transmembrane protein and a component of the dystrophin-glycoprotein complex that links the actin cytoskeleton to the extracellular matrix. Unlike other family members that are predominantly expressed in striated muscle, epsilon sarcoglycans are expressed more broadly. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternative splice transcript variants of this gene have been found to encode distinct isoforms. A pseudogene related to this gene is located on chromosome 2.