基因名:
DES
产品别名:
CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R; DES; desmin; desmin; desmin; cardiomyopathy, dilated 1F (autosomal dominant); epididymis secretory sperm binding protein; intermediate filament protein; 磷酸化结蛋白; 结蛋白; 结蛋白(Des); 结蛋白(Des)真核蛋白;
背景信息:
Desmin is a cytoplasmic protein and belongs to the intermediate filament family. interacts with DST and MTM1. Desmin is only expressed in vertebrates, however homologous proteins are found in many organisms. Desmin is the main intermediate filament in mature skeletal, cardiac and smooth-muscle cells. DES founctions as homopolymers to form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. .Defects in DES are cause of the myopathy myofibrillar type 1, cardiomyopathy dilated type 1I, and neurogenic scapuloperoneal syndrome Kaeser type.