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, Jul 2008]
- Regulation of heart rate
- Detection of calcium ion
- Striated muscle contraction
- Regulation of cell communication by electrical coupling
- Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- Ventricular tachycardia, catecholaminergic polymorphic, 2
- Catecholaminergic polymorphic ventricular tachycardia
- Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
- Cardiac arrest
- Wolff-parkinson-white syndrome
CASQ2 localizations – Subcellular Localization Database
