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DES desmin

Gene ID: 1674, updated on 29-Mar-2023
Gene type: protein coding
Also known as: CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R


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]

Genomic context

Chromosome: 2; NC_000002.12 (219418377..219426734)
Total number of exons:


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