Presku: | AAP41482 |
Size: | 100 ug |
Weight: | 52kDa |
Gene: | 1674 |
Format: | Lyophilized powder |
Target: | DES is 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 its gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.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. |
Alternative names: | CMD1I, CSM1, CSM2, FLJ12025, FLJ39719, FLJ41013, FLJ41793 |