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Beschreibung

Desmin (UniProt: P17661) is encoded by the DES gene (Gene ID: 1674) in human. Desmin is a major class III intermediate filament protein essential for the structural integrity and function of muscle.In adult striated muscle desmin forms a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. It may also act as a sarcomeric microtubule-anchoring protein and specifically associate with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Desmin is particularly abundant at the myotendinous junctions and at the neuromuscular junctions of skeletal muscle. Mammalian cardiac muscle cells contain higher amounts of desmin (up to 2% of total protein) compared to skeletal muscle cells (0.35% of total protein). Mutations in DES gene have been linked to familial cardiac and skeletal myopathy characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, and restrictive heart failure. It can also lead to myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. (rEF.: Denise Paulin, D., and Li, Z (2004). Experimental Cell Research 301(1), 1 -7).