[3] Calmodulin[4] plays a role in calcium signal transduction pathways by regulating control of ion channels, enzymes, aquaporins, and other proteins.

Calmodulin plays a significant role in numerous cellular pathways and it acts as a calcium detector within the cells that interact with varied target proteins.

Upon binding to targeted calcium (acts as ligand), calmodulin undergoes a change in shape that allows it to interact with multiple protein types including phosphatases, ion channels, and kinases.

This conformational change is associated with undergoing various cellular processes: including muscle contraction, release of neurotransmitters into the bloodstream, and gene expression.

Calmodulin functioning defects cause interference of vital calcium signaling events within the heart muscle which disrupts membrane ion channels.

It often produces life-threatening ventricular arrhythmias that manifest at a young age with persistent periods of T-wave alternans, notably sustained QTc intervals, and irregular 2:1 atrioventricular blocks.

The mutations cause disruption in the proper functioning of the gene, which leads to abnormal calcium control in cardiac tissue cells.

The calcium disturbance can trigger ventricular arrhythmias in reaction to blood vessel vasoconstriction, such as during periods of exercise or elevated stress.