Anti-Desmin

Desmin (DES), with 470-amino acid protein (about 52kDa), belongs to the intermediate filament family and Desmin is class III intermediate filaments found in muscle cells. Homopolymers of Desmin form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane.Mutations in Desmin are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.Desmin is also expressed in smooth muscle cells of both airways and alveolar ducts and Desmin is a load-bearing protein that stiffens the airways and consequently the lung and modulates airway contractile response. Control: Appendix, Placenta, leiomyoma. Protein function: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z- line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin. [The UniProt Consortium]