Gene CASQ2

Also known as

CPVT2, calsequestrin 2

Overview

CASQ2 (Calsequestrin 2) encodes the major calcium-binding protein in the sarcoplasmic reticulum of cardiac muscle cells. Calsequestrin acts as a calcium buffer and sensor, regulating calcium release during each heartbeat and preventing inappropriate calcium release that could trigger arrhythmias.

Recessive mutations in CASQ2 cause catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2), a severe inherited arrhythmia syndrome. Affected individuals have normal resting ECGs but develop bidirectional or polymorphic ventricular tachycardia during exercise or emotional stress, often leading to syncope or sudden cardiac death in childhood or adolescence if untreated.

Understanding your CASQ2 genetic status is crucial for evaluation of exercise-induced syncope and unexplained sudden cardiac arrest survivors. CPVT2 is effectively treated with beta-blockers and flecainide, with implantable defibrillators reserved for breakthrough events. Competitive sports and strenuous exercise are typically restricted in affected individuals.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene CASQ2 through your personalized DNA reports.