Western blot analysis of mouse muscle extracts (35 ug) with CASQ2 monoclonal antibody, clone AT4E10 (Cat # MAB10015) at 1:500 (Lane 1), 1:1000 (Lane 2) and , 1:5000 (Lane 3) dilution. Proteins were visualized using a goat anti-mouse secondary antibody conjugated to HRP and an ECL detection system.
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq