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 organization of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.
Other Names
intermediate filament protein
Related Genetics Topics
- Arrhythmogenic right ventricular cardiomyopathy — MedlinePlus Genetics
- Familial restrictive cardiomyopathy — MedlinePlus Genetics
- Myofibrillar myopathy — MedlinePlus Genetics
- Nonsyndromic dilated cardiomyopathy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 1674
- OMIM: 125660
- OMIM: 604765
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
