General Description
Desmin is an intermediate filament protein found mainly in skeletal, cardiac, and smooth muscle cells. It acts as a marker for tumor origin. It also facilitates mechanical support for muscles, mitochondrial localization, myofibrillogenesis, gene expression regulation, and intracellular signalling. Anti-desmin antibody can be used for immunocytochemical localization of intermediate filaments in all types of muscle cells. It can also be used to stain a wide desmin band of 50,000 to 55,000 molecular weight using immunoblotting assays. Rabbit anti-desmin antibody reacts specifically with desmin in bovine, mouse, chicken and human.
Biochem/physiol Actions
Desmin plays a crucial role in providing mechanical strength to muscle tissues. Mutations in desmin gene contributes to imbalance in skeletal proteins, resulting in desminopathies. Missense mutations in desmin gene leads to hypertrophic cardiomyopathy and systemic myopathy. Mutations in desmin gene impairs the stability of intermediary filaments in cardiomyocytes, contributing to pathophysiology of cardiac diseases.
