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Desmin is a type III muscle-specific intermediate filament protein.1 It is composed of a central rod containing four α-helical domains, which are important for self-assembly, and non-helical head and tail domains at the N- and C-termini, respectively. It is expressed specifically in muscle cells beginning in early development and in skeletal and cardiac muscle progenitor cells in the adult. Desmin associates with the cardiac and skeletal muscle sarcolemma at costameres and is involved in sarcolemma organization. In cardiac muscle, it is found at the desmosomes of intercalated disks. It also associates with mitochondria, and desmin-deficient mice have mitochondrial abnormalities, which lead to heart failure. Desmin self-polymerizes but can also form heteropolymers with other type III or -IV intermediate filament proteins.2 Mutations in DES, the gene encoding desmin, disrupt desmin self-assembly, lead to accumulation of cytoskeletal protein aggregates, and are associated with desmin-related myopathies that affect both skeletal and cardiac muscle.3,4 Cayman’s Desmin Monoclonal Antibody (Clone RM234) can be used for immunohistochemistry (IHC) and Western blot (WB) applications. The antibody recognizes desmin at approximately 54 kDa from human and mouse samples.
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1. Type III intermediate filaments desmin, glial fibrillary acidic protein (GFAP), vimentin, and peripherin. Cold Spring Harb. Perspect. Biol. 9(12), a021642 (2017).
2. Introducing intermediate filaments: From discovery to disease. J. Clin. Invest. 119(7), 1763-1771 (2009).
3. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat. Genet. 19(4), 402-403 (1998).
4. Desmin myopathy. Brain 127(Pt 4), 723-734 (2004).