Gene CALM1
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Also known as
CALML2, CPVT4, LQT14, calmodulin 1Overview
CALM1 (Calmodulin 1) encodes calmodulin, a ubiquitous calcium-binding messenger protein that mediates many calcium-dependent cellular processes. Calmodulin regulates ion channels, kinases, and phosphatases, playing essential roles in muscle contraction, neurotransmission, cell division, and cardiac rhythm control.Mutations in CALM1 cause life-threatening cardiac arrhythmias including catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS). These calmodulinopathies typically present in infancy or early childhood with syncope, seizures, or sudden cardiac arrest triggered by exercise or emotional stress. Despite being encoded by three different genes, all calmodulin proteins are identical, yet mutations in any one can cause disease.
Understanding your CALM1 genetic status is critical for individuals with unexplained cardiac arrhythmias or family history of sudden cardiac death. Early identification of pathogenic variants enables implementation of beta-blocker therapy, activity restrictions, and consideration of implantable cardioverter-defibrillator placement to prevent sudden death.