Analysis of ACTA1 Gene (Mutation) in Actin Accumulation Myopathy by RT-qPCR (CAT#: STEM-MT-0186-LGZ)

Introduction

Also known as: ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYP2A; CMYP2B; CMYP2C<br />The product encoded by this gene belongs to the actin family, a group of highly conserved proteins that play a role in the movement, structure and integrity of cells. α, β, and γ-actin isoforms have been identified, α-actin is a major component of contractile organs, and β- and γ-actin are involved in the regulation of cell motility. This actin is alpha-actin found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including linear myopathy, congenital myopathy with thin filaments, congenital myopathy with core, and congenital myopathy with fiber-type dysregulation, which cause defects in muscle fibers, manifested as hypotonia.