myotilin

Normal function

The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. Myotilin is found within Z-discs, where it binds with other proteins to help organize and stabilize the sarcomeres. The organisation of sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation. 

Conditions referring to this gene or chromosome

• Myofibrillar myopathy

Other names

TTID