Analysis of ACTN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0190-LGZ)

Introduction

Also known as: MPD6; CMH23; CMYP8; CMD1AA; MYOCOZ
α-actin belongs to the phantom gene superfamily, which represents a diverse group of cytoskeletal proteins including α and β phantom and dystrophin. Actin is an actin-binding protein with multiple roles in different cell types. In non-muscle cells, the cytoskeletal isoform is found along actin bundles and at adherens-type junctions, where it is involved in binding actin to membranes. In contrast, skeletal, cardiac and smooth muscle isoforms localize to Z-disks and similar compact bodies, where they help anchor myofibrillar actin filaments. This gene encodes a muscle-specific isoform of α-actin that is expressed in both skeletal and cardiac muscle. Several transcript variants of this gene have been found encoding different isoforms.