Protein Name desmin
Organism Homo sapiens
Gene ID 1674
Gene Symbol

DES

UniProt P17661 (DESM_HUMAN), Q53SB5 (Q53SB5_HUMAN)
Relationships Total Number of functionally related compound(s) : 179
Total Number of Articles : 182
Description

desmin

Gene Summary

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]

synonyms
  • desmin
  • cardiomyopathy, dilated 1F (autosomal dominant)
  • cardiomyopathy, dilated 1I
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Properties