CASQ2 (Calsequestrin 2)

Calsequestrin 2 (CASQ2) is a protein found in heart and skeletal muscles that plays a crucial role in storing calcium ions. Calcium ions are essential for muscle contraction, and CASQ2 helps regulate their availability within muscle cells. When a muscle is stimulated to contract, calcium is released from the storage sites where CASQ2 resides, enabling the muscle to contract effectively. Deficiencies or mutations in CASQ2 can lead to heart conditions, such as catecholaminergic polymorphic ventricular tachycardia (CPVT), which can cause abnormal heart rhythms. Thus, CASQ2 is vital for healthy muscle function and cardiac health.