The pln gene encodes phospholamban, a membrane protein that regulates the cardiac muscle sarcoplasmic reticulum ca2+ atpase (serca). It is expressed in the heart and skeletal muscle. Phospholamban func...[+]

The pln gene encodes phospholamban, a membrane protein that regulates the cardiac muscle sarcoplasmic reticulum ca2+ atpase (serca). It is expressed in the heart and skeletal muscle. Phospholamban functions as a reversible inhibitor of serca; its inhibition is relieved upon phosphorylation, which increases the rate of calcium uptake into the sarcoplasmic reticulum and promotes muscle relaxation. [-]

             dilated cardiomyopathy 1P

          CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD