| Gene Symbol | DES |
| Entrez Gene ID | 1674 |
| Full Name | desmin |
| Synonyms | CDCD3,CMD1F,CSM1,CSM2,LGMD1D,LGMD1E,LGMD2R |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Myopathy, myofibrillar, 1, 601419 (3); Cardiomyopathy, dilated, 1I, 604765 (3); Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3) |
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