Truncating mutations in TTN, the gene encoding the titin protein, cause 15 to 25% of nonischemic dilated cardiomyopathy (DCM), however it is unclear whether this is due to haploinsufficiency or the presence of truncated titin proteins.
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What is TTN gene?</h3>
The TTN gene codes for the production of titin, a massive protein. This protein is crucial in both the muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Different muscles produce somewhat different copies of titin (known as isoforms).
Titin is a necessary component of structures called sarcomeres within muscle cells. Sarcomeres are the fundamental components of muscular contraction; they are composed of proteins that produce the mechanical force required for muscles to contract. Titin has numerous purposes within sarcomeres. One of the primary functions of the protein is to provide shape, flexibility, and stability to these cell structures. Titin interacts with other muscle proteins, such as actin and myosin, to maintain sarcomere components in place while muscles contract.
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