蛋白名称
CMD1I;CSM1;CSM2;DES;DESM_HUMAN;Desmin;FLJ12025;FLJ39719;FLJ41013;FLJ41793;Intermediate filament protein;OTTHUMP00000064865
免疫原
Synthesized peptide derived from human Desmin
特异性
The antibody can specifically recognize human Desmin protein.
组成
PBS, pH7.2, 0.03% Porcolin 300, containing stabilizing protein
来源
Monoclonal Mouse IgG2b, Kappa
稀释比例
IHC-p 1:200-400, WB 1:200-1000,
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
其他名称
CMD1I;CSM1;CSM2;DES;DESM_HUMAN;Desmin;FLJ12025;FLJ39719;FLJ41013;FLJ41793;Intermediate filament protein;OTTHUMP00000064865
背景
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],
功能
disease:Defects in DES are the cause of cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,disease:Defects in DES are the cause of desmin-related cardio-skeletal myopathy (CSM) [MIM:601419]; also known as desmin-related myopathy (DRM). CSM is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. A desmin-related myopathy can have a distal onset, it is then known as hereditary distal myopathy (HDM).,disease:Defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400].
