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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DES-20-RE | 20 (40 μL) | 200 μL |  |
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| DES-20-OR | 20 (40 μL) | 200 μL |  |
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| DES-20-GO | 20 (40 μL) | 200 μL |  |
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| DES-20-GR | 20 (40 μL) | 200 μL |  |
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| DES-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : DES
Gene Name : Desmin
Chromosome : CHR 2: 219,418,376-219,426,738
Locus : 2q35
Alt. Genes : LRPPRC
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