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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. Note: This description may include information from UniProtKB.
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
Reference #:  P17661 (UniProtKB)
Alt. Names/Synonyms: CMD1I; CSM1; CSM2; DES; DESM; Desmin; FLJ12025; FLJ39719; FLJ41013; FLJ41793
Gene Symbols: DES
Molecular weight: 53,536 Da
Basal Isoelectric point: 5.21  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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