CAV3 Gene
The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. Caveolin-3 may also help regulate calcium levels in the muscle cell, which control muscle contraction and relaxation. Mutations in the caveolin-3 (CAV3) gene are associated with cardiomyopathy, and most recently long– QT syndrome (LQTS). The missense mutation CAV3 c.233C>T: p.T78M has been previously associated with LQTS.
