P17661

Desmin also known as DES is a 469 amino acid protein found near the Z line in sarcomeres, is expressed more frequently in adult differentiated state tissues. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Desmin makes up attachments between the terminal Z-disc and membrane-associated proteins to form a force-transmitting system. Mutations in the gene encoding for Desmin are associated with adult-onset skeletal myopathy, sporadic disease and mild cardiac involvement.