CAV3 : caveolin 3
Description
The CAV3 (caveolin 3) is a protein-coding gene located on chromosome 3.
The CAV3 gene provides instructions for making caveolin-3, a protein found in the membrane surrounding muscle cells. It is the main component of caveolae, small pouches in the muscle cell membrane. Within caveolae, caveolin-3 acts as a scaffold to organize molecules important for cell signaling and structure maintenance. These molecules include proteins that make up sodium channels, which transport sodium ions into cells and play a key role in generating and transmitting electrical signals. In cardiac muscle, sodium channels help maintain the heart's normal rhythm. Caveolin-3 may also regulate calcium levels in muscle cells, which control muscle contraction and relaxation.
CAV3 is also known as LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21.
Associated Diseases
- Romano-Ward syndrome
- Creatine phosphokinase, elevated serum
- Cardiomyopathy, familial hypertrophic 1
- Myopathy, distal, Tateyama type
- Long QT syndrome 9
- Rippling muscle disease
- Distal myopathy, Tateyama type
- Isolated asymptomatic elevation of creatine phosphokinase
- Limb-girdle muscular dystrophy
- Isolated hyperCKemia
- CAV3-related distal myopathy
