desmin

Normal function

The DES gene provides instructions for making a protein called desmin. Desmin 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. Desmin surrounds Z-discs and plays an important role in organizing the structure and coordinating the function of muscle fibers. The organisation of the 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

• קרדיומיופתיה אריתמוגנית של החדר הימני

• Familial restrictive cardiomyopathy

• Myofibrillar myopathy

• Nonsyndromic dilated cardiomyopathy

Other names

intermediate filament protein