TTN gene

The TTN gene provides instructions for making a protein called titin, which is essential for the structure and flexibility of muscle fibers, especially in the heart and skeletal muscles. Titin acts like a spring, helping muscles contract and relax properly. Mutations or changes in the TTN gene can disrupt this function, potentially leading to muscle weakness or heart conditions such as cardiomyopathy. Because titin is the largest known human protein, the TTN gene is also one of the largest and most complex genes in the human genome.