Caveolin 3

Caveolin 3 is a protein that in humans is encoded by the CAV3 gene. It is a member of the caveolin family of proteins, which are integral membrane proteins that play a central role in the formation of caveolae in the plasma membrane.

Function

Caveolin 3 is a muscle-specific protein found in the sarcolemma of skeletal muscle and cardiac muscle cells. It is involved in the formation of caveolae, small invaginations in the plasma membrane that are involved in various cellular processes such as endocytosis, signal transduction, and lipid metabolism. Caveolin 3 also plays a role in the regulation of muscle contraction and muscle cell differentiation.

Clinical significance

Mutations in the CAV3 gene have been associated with several muscle-related disorders, including limb-girdle muscular dystrophy type 1C, Rippling muscle disease, distal myopathy, and hyperCKemia. These disorders are characterized by muscle weakness and wasting, and in some cases, muscle stiffness and cramps.

See also

• Caveolin
• Caveolae
• Muscular dystrophy

External links

• GeneCards - CAV3