• Target：
• Desmin

• Fields：
• >>Hypertrophic cardiomyopathy;>>Arrhythmogenic right ventricular cardiomyopathy;>>Dilated cardiomyopathy

• Gene Name：
• DES

• Protein Name：
• Desmin

• Human Gene Id：
• 1674

• Human Swiss Prot No：
• P17661

• Immunogen：
• Synthesized peptide derived from human Desmin AA range: 400-470

• Specificity：
• The antibody can specifically recognize human Desmin protein.

• Source：
• Mouse, Monoclonal/IgG1, Kappa

• Purification：
• The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.

• Storage Stability：
• 2°C to 8°C/1 year

• Other Name：
• Desmin

• Background：
• 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],

• Function：
• 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].

• Subcellular Location：
• Cytoplasmic

• Expression：
• Cytoplasmic

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