CAV3
Function
May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).
Involvement in disease
HyperCKmia
HYPCK
Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.
None
The disease is caused by variants affecting the gene represented in this entry.
Rippling muscle disease 2
RMD2
A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, familial hypertrophic
CMH
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
None
The disease is caused by variants affecting the gene represented in this entry.
Long QT syndrome 9
LQT9
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sudden infant death syndrome
SIDS
SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Myopathy, distal, Tateyama type
MPDT
A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2.
Sequence Similarities
Belongs to the caveolin family.
Tissue Specificity
Expressed predominantly in muscle.
Cellular localization
- Golgi apparatus membrane
- Peripheral membrane protein
- Cell membrane
- Peripheral membrane protein
- Membrane
- Caveola
- Peripheral membrane protein
- Cell membrane
- Sarcolemma
- Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity).
Alternative names
Caveolin-3, M-caveolin, CAV3