caveolaarin3

Caveolaarin3 is a protein belonging to the caveolin family, which are integral membrane proteins known for their role in forming caveolae, flask-shaped invaginations of the plasma membrane found in many cell types. Caveolae are involved in various cellular processes including signal transduction, cholesterol homeostasis, and endocytosis. Caveolaarin3, also known as CAV3, is a muscle-specific isoform. Its primary location is in the sarcolemma, the plasma membrane of muscle cells.

The CAV3 protein plays a crucial role in the structure and function of skeletal and cardiac muscle. It is a major component of caveolae in these tissues, contributing to their formation and stability. Research has indicated that CAV3 is involved in mechanosensing, allowing muscle cells to respond to mechanical stress. It also plays a part in regulating the activity of ion channels and signaling molecules within the muscle cell membrane, influencing processes like calcium handling and muscle contraction.

Mutations in the CAV3 gene have been linked to several muscle disorders. For example, mutations in CAV3 are implicated in limb-girdle muscular dystrophy type 1C (LGMD1C), a condition characterized by progressive weakness and degeneration of skeletal muscles. Other associated conditions include rippling muscle disease and familial hypercholesterolemia, highlighting the diverse roles of CAV3 in muscle health and lipid metabolism. The precise mechanisms by which CAV3 mutations lead to these pathologies are still under investigation, but likely involve disruption of caveolae structure and function.