Description
Product Characteristics:
Description: Desmin (DES), with 470-amino acid protein (about 52 kDa), 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.
Aliases: Desmin
Target Information: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]