This gene encodes a muscle-specific class III intermediatefilament. Homopolymers of this protein form a stableintracytoplasmic filamentous network connecting myofibrils to eachother and to the plasma membrane. Mutations in this gene areassociated with desmin-related myopathy, a familial cardiac andskeletal myopathy (CSM), and with distal myopathies. [provided byRefSeq].
Pathway
Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy (ARVC); Aurora B signaling; Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM); Muscle contraction; Striated Muscle Contraction
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