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

The antibody can specifically recognize human Desmin protein.

DES

CMD1I;CSM1;CSM2;DES;DESM_HUMAN;Desmin;FLJ12025;FLJ39719;FLJ41013;FLJ41793;Intermediate filament protein;OTTHUMP00000064865

CMD1I ;
CSM1 ;
CSM2 ;
DES ;
DESM_HUMAN ;
Desmin ;
FLJ12025 ;
FLJ39719 ;
FLJ41013 ;
FLJ41793 ;
Intermediate filament protein ;
OTTHUMP00000064865

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] ,

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]. Kaeser syndrome is an autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal , limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness , dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden , cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical , myofibrillar changes with accumulation of desmin. ,Function:Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. ,online information:Desmin entry ,similarity:Belongs to the intermediate filament family. ,subunit:Homopolymer. ,

Cytoplasmic

>>Hypertrophic cardiomyopathy ;
>>Arrhythmogenic right ventricular cardiomyopathy ;
>>Dilated cardiomyopathy