Desmin Rabbit pAb

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. Synonyma: CSM1, CSM2, CDCD3, LGMD1D, LGMD1E, LGMD2R, Desmin