Check out our August newsletter
PLN (NM_002667.2) encodes phospholamban, a sarcoplasmic reticulum membrane protein expressed in cardiac muscle. PLN is located at 6q22.31 and consists of 1 coding exon. Phospholamban regulates cellular calcium levels by interacting with the cardiac muscle sarcoplasmic reticulum calcium ATPase (SERCA2a). In its dephosphorylated state, PLN interacts with SERCA2a to inhibit calcium transport into the sarcoplasmic reticulum. In its phosphorylated state, PLN releases the inhibition of SERCA2A, enabling the transport of calcium into the sarcoplasmic reticulum and allowing the myofilaments to relax. Mutations in PLN have been associated with dilated cardiomyopathy (DCM), and they have also been reported in hypertrophic cardiomyopathy (HCM) (Haghighi et al. 2012 J Molec Cell Cardiol. 52:773-782; Shendoy and Rockman, 2011. Nature. 477:546-547).