Analysis of TCAP Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2487-LGZ)

Introduction

Official Full Name: titin-cap
Also known as: TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin
Sarcomere assembly is regulated by the muscle protein titin. Myosin is a giant elastin protein with kinase activity that reaches up to half the length of a sarcomere. It is the scaffold to which myofibrils and other muscle-associated proteins attach. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domain and is a substrate for titin kinase, an interaction thought to be critical for sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G.