Check out our October newsletter
CAV3 (NM_033337.1) encodes caveolin-3, which functions as a component of the caveolae, or small invaginations within plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. CAV3, the muscle-specific form of caveolin, is located at 3p25.3 and is composed of 2 coding exons. Mutations in this gene have been associated with several diseases, collectively referred to as caveolinopathies. These diseases include limb-girdle muscular dystrophy type-1C, hyperCKemia (elevated serum creatine phosphokinase), rippling muscle disease (RMD), and hypertrophic cardiomyopathy (HCM) (Gazzerro et al. Handb Clin Neurol. 2011;101:135-142; Hayashi et al. Biochem Biophys Res Commun. 2004;313:178–84). CAV3 mutations have also been proposed to cause long QT syndrome and sudden infant death syndrome (Vatta et al. Circulation. 2006;14:2104-2112; Arnestad et al. Circulation. 2007;115:361-367).