MyBioSource.com's Rabbit Anti-Caveolin-3/CAV3 Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunohistochemistry, Immunohistochemistry - fixed, Immunoprecipitation, and Western Blot.
Description
Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Caveolin-3 (CAV3) is a principal structural protein of the caveolae membrane domains, which has been reported to participate in cell signaling as well as the maintenance of cell structure. Mutations in the CAV3 gene encoding caveolin-3 (Cav3), a scaffolding protein integral to caveolae in cardiomyocytes, have been associated with the congenital long-QT syndrome (LQT9). Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb-girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy, and isolated hyperCKemia