Desmin (DES) Antibody – Rabbit Monoclonal

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]

desmin: a class-III intermediate filaments found in muscle cells. 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. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: cytosol; intermediate filament cytoskeleton; sarcolemma; Z disc

Molecular Function: cytoskeletal protein binding; identical protein binding; protein binding; structural constituent of cytoskeleton

Biological Process: cytoskeleton organization and biogenesis; intermediate filament organization; muscle contraction; muscle filament sliding; regulation of heart contraction

Disease: Cardiomyopathy, Dilated, 1i; Muscular Dystrophy, Limb-girdle, Type 2r; Myopathy, Myofibrillar, 1; Scapuloperoneal Syndrome, Neurogenic, Kaeser Type