Gene Symbol | DES |
Entrez Gene ID | 1674 |
Full Name | desmin |
Synonyms | CDCD3,CMD1F,CSM1,CSM2,LGMD1D,LGMD1E,LGMD2R |
General protein information |
|
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) |