Product Information
Protein NameDesmin
Human Gene Id1674
Human Swiss Prot NoP17661
Mouse Gene Id13346
Mouse Swiss Prot NoP31001
Rat Gene Id64362
Rat Swiss Prot NoP48675
SpecificityDesmin Polyclonal Antibody detects endogenous levels of Desmin protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameDES; Desmin
Molecular Weight(Da):53536
Observed Band(KD)55
Functiondisease: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 LocationCytoplasm, myofibril, sarcomere, Z line . Cytoplasm . Cell membrane, sarcolemma . Nucleus . Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). .
ExpressionMuscle,Skeletal muscle,Exosome-delivered EGFR regulates liver microenvironment to promote gastric cancer liver metastasis. Nature Communications 2017 Apr 10 WB,IF Human,Mouse 1:1000 liver,SGC7901 cell-xenograft SGC7901 cell
BackgroundThis 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],