Analysis of ACTA1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0775-LGZ)

Introduction

Official Full Name: actin alpha 1, skeletal muscle
Also known as: ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYP2A; CMYP2B; CMYP2C
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, while 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 nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia.