Gene CALM3
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Also known as
CALML1, LQT16, PHKG, calmodulin 3Overview
CALM3 (Calmodulin 3) is the third gene encoding calmodulin, the essential calcium-sensing protein that regulates cardiac ion channels, muscle contraction, and countless other calcium-dependent processes. While producing identical protein to CALM1 and CALM2, CALM3 has unique genomic location on chromosome 19 and distinct regulatory elements.Mutations in CALM3 cause long QT syndrome type 16 (LQT16), characterized by prolonged cardiac repolarization and risk of life-threatening arrhythmias. CALM3 mutations can also cause idiopathic ventricular fibrillation. Interestingly, different mutations in the calmodulin genes can cause distinct clinical syndromes despite producing the same protein, suggesting gene-specific expression or regulatory effects.
Understanding your CALM3 genetic status is important for comprehensive cardiac arrhythmia evaluation. Given that calmodulinopathies often cause more severe disease than typical channelopathies, identification of CALM3 variants enables appropriately aggressive management strategies and cascade screening of family members.