Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human leiomyoma with DES monoclonal antibody, clone E18-V (Cat # MAB23298).
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