PLN Gene
The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and familial hypertrophic cardiomyopathy. Genetic screening of dilated cardiomyopathy patients identified a previously uncharacterized deletion of arginine 14 (PLN R14Del) in the coding region of the phospholamban (PLN) gene.
