Calsequestrin gene (CASQ2)

The CASQ2 gene provides instructions for making calsequestrin, a protein found in heart muscle cells. Calsequestrin plays a crucial role in storing calcium, which is essential for heart contractions. By binding calcium within specialized cell structures, it helps regulate calcium levels during each heartbeat, ensuring proper heart function. Mutations in CASQ2 can disrupt calcium storage, leading to irregular heart rhythms or arrhythmias, which may cause fainting or even sudden cardiac arrest. Overall, CASQ2 is vital for maintaining normal electrical activity and contractility of the heart.