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Calsequestrin (CASQ) is a Ca2+-binding protein present primarily in junctional sarcoplasmic reticulum of skeletal and cardiac muscle; the cardiac form (CASQ2) is encoded by a separate gene. The primary role of CASQ2 is buffering of the sarcoplasmic reticulum Ca2+ ions, but another role for CASQ2 has emerged recently: CASQ2 regulates the open probability of ryanodine receptor 2 (RyR2). Mutations in CASQ2 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.
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Protein Aliases: calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, cardiac muscle; Calsequestrin, cardiac muscle isoform; Calsequestrin-2
Gene Aliases: CASQ2; PDIB2
UniProt ID: (Human) O14958
Entrez Gene ID: (Human) 845
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