Gene CALM2
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Also known as
CAMII, LQT15, PHKD, calmodulin 2Overview
CALM2 (Calmodulin 2) is one of three genes encoding the identical calmodulin protein, a critical calcium sensor that regulates hundreds of cellular processes. Despite producing identical protein to CALM1 and CALM3, CALM2 has distinct expression patterns and regulatory regions, contributing to tissue-specific calmodulin availability.Mutations in CALM2 cause severe cardiac arrhythmias similar to CALM1, including long QT syndrome type 15 (LQT15) and catecholaminergic polymorphic ventricular tachycardia. These conditions often present with recurrent syncope, seizure-like episodes, or sudden cardiac arrest in young children. The severity of calmodulinopathies often exceeds that of typical ion channel mutations causing similar syndromes.
Understanding your CALM2 genetic status is essential for evaluation of unexplained cardiac arrhythmias, especially in young patients. Identification of pathogenic CALM2 variants guides aggressive preventive treatment including beta-blockers, calcium channel blockers, and often implantable defibrillators given the high risk of sudden death.