Caveolin-3 (CAV3) is a muscle-specific isoform of the caveolin protein family, primarily expressed in skeletal, cardiac, and smooth muscle cells. It plays a critical role in forming caveolae, small invaginations of the plasma membrane involved in signal transduction, lipid homeostasis, and mechanoprotection. CAV3 interacts with various signaling molecules, including nitric oxide synthase (nNOS) and dystrophin-glycoprotein complex components, influencing muscle membrane stability and repair. Mutations in the CAV3 gene are linked to several hereditary muscle disorders, such as limb-girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, and isolated hyperCKemia. These mutations often disrupt caveolae formation, impair membrane integrity, or perturb signaling pathways, leading to muscle weakness, myopathy, or episodic rhabdomyolysis.
CAV3 antibodies are essential tools for studying its expression, localization, and functional alterations in disease models. In diagnostics, they help detect CAV3 protein deficiencies or abnormal aggregation in muscle biopsies, aiding in the identification of caveolinopathies. Research applications include Western blotting, immunohistochemistry, and immunofluorescence to explore CAV3's role in muscular pathologies or its interplay with other cellular components. Additionally, CAV3 antibodies contribute to investigating potential therapeutic strategies, such as gene therapy or membrane-stabilizing interventions, targeting caveolin-related mechanisms. Their specificity and reliability are critical for advancing both basic research and clinical understanding of CAV3-associated diseases.