DES Antibody – Mouse 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: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: intermediate filament; fascia adherens; cytosol; Z disc; neuromuscular junction; sarcolemma

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

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

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