PLB Polyclonal Antibody, 20ul Immunoassays Mutations in this gene have

Mutations in this gene have been reported to be associated with nonsyndromic hearing loss

Weissenbacher-Zweymuller syndrome

TFRC encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis

and other neoplasms

resulting from an inborn error of endocannabinoid metabolism

PLB Polyclonal Antibody, 20ul Immunoassays Mutations in this gene haveThe protein encoded by PLN (phospholamban)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 subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the