Protein Name | desmin |
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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 |
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Properties | |