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]

  • Muscle contraction
  • Cytoskeleton organization
  • Regulation of heart contraction
  • Muscle filament sliding
  • Intermediate filament organization
  • Myopathy, myofibrillar, 1
  • Scapuloperoneal syndrome, neurogenic, kaeser type
  • Cardiomyopathy, dilated, 1i
  • Neuromuscular disease
  • Dilated cardiomyopathy

Gene Location