SAP97 is a key scaffolding protein that supports the function of cardiac ion channels, influencing heart excitability, and potential arrhythmias.
Researchers created a mouse model to study the effects of removing SAP97 on heart function, which revealed serious ECG abnormalities and increased risk of arrhythmias.
No mutations were identified in long QT syndrome cases, but a novel human mutation linked to Brugada syndrome was discovered, indicating SAP97's role in heart disease risk through its interactions with ion channels.