Gene RBM20
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Also known as
RNA Binding Motif Protein 20, CMD1DDOverview
RBM20 (RNA Binding Motif Protein 20) encodes a cardiac-specific RNA-binding protein that regulates alternative splicing of numerous genes critical for heart function. This protein acts as a master regulator of cardiac gene expression, particularly influencing the splicing of genes encoding structural proteins like titin (TTN) and calcium-handling proteins. RBM20 contains an RNA recognition motif and arginine-serine-rich domain that enable it to bind to specific RNA sequences and modulate pre-mRNA splicing patterns in cardiomyocytes.Mutations in RBM20 are associated with dilated cardiomyopathy (DCM), a condition characterized by enlarged and weakened heart chambers that leads to impaired cardiac function and heart failure. RBM20-related cardiomyopathy tends to have a particularly aggressive course with early onset, rapid progression, and high rates of arrhythmias and sudden cardiac death. Most disease-causing mutations cluster in a highly conserved arginine-serine-rich region of the protein, disrupting its splicing regulatory function. Genetic testing for RBM20 mutations is important for risk stratification in families with hereditary cardiomyopathy, as carriers may benefit from early surveillance and preventive interventions including implantable cardioverter-defibrillators.