CAV3 Antibody – Rabbit Polyclonal

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]

caveolin-3: 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. Defects in CAV3 are the cause of limb-girdle muscular dystrophy type 1C (LGMD1C). LGMD1C is a myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. LGMD1C inheritance can be autosomal dominant or recessive. Defects in CAV3 are a cause of hyperCKmia (HYPCK). It is a disease characterized by persistent elevated levels of serum creatine kinase without muscle weakness. Defects in CAV3 are a cause of rippling muscle disease (RMD). RMD is a rare disorder characterized by mechanically triggered contractions of skeletal muscle. In RMD, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. Defects in CAV3 are a cause of familial hypertrophic cardiomyopathy (CMH); also designated FHC or HCM. Familial hypertrophic cardiomyopathy is 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. Defects in CAV3 are the cause of long QT syndrome type 9 (LQT9). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy. Defects in CAV3 can be a cause of 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. Long QT syndromes-associated mutations can be responsible for some SIDS cases. Defects in CAV3 are the cause of 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. Belongs to the caveolin family.

Protein type: Extracellular matrix; Cell development/differentiation; Motility/polarity/chemotaxis; Dystrophin complex

Chromosomal Location of Human Ortholog: 3p25

Cellular Component: caveola; cell surface; cytosol; dystrophin-associated glycoprotein complex; endoplasmic reticulum; Golgi membrane; intracellular membrane-bound organelle; lipid raft; neuromuscular junction; plasma membrane; sarcolemma; T-tubule; vesicle; Z disc

Molecular Function: alpha-tubulin binding; calcium channel regulator activity; nitric-oxide synthase binding; potassium channel inhibitor activity; protein binding; protein C-terminus binding; protein complex binding; protein complex scaffold; sodium channel regulator activity

Biological Process: actin filament organization; cardiac muscle cell development; cell differentiation; cell growth; cholesterol homeostasis; cytoplasmic microtubule organization and biogenesis; elevation of cytosolic calcium ion concentration; endocytosis; glucose homeostasis; lipid raft organization and biogenesis; muscle contraction; muscle development; muscle maintenance; myoblast fusion; negative regulation of calcium ion transport; negative regulation of cell size; negative regulation of MAP kinase activity; negative regulation of MAPKKK cascade; negative regulation of nitric-oxide synthase activity; negative regulation of protein kinase activity; nucleus localization; plasma membrane organization and biogenesis; plasma membrane repair; positive regulation of cell proliferation; positive regulation of microtubule polymerization; protein localization; regulation of heart contraction; regulation of heart rate; regulation of membrane potential; regulation of nerve growth factor receptor activity; regulation of protein kinase B signaling cascade; regulation of skeletal muscle contraction; regulation of transforming growth factor beta receptor signaling pathway; T-tubule organization and biogenesis; triacylglycerol metabolic process

Disease: Cardiomyopathy, Familial Hypertrophic, 1; Creatine Phosphokinase, Elevated Serum; Long Qt Syndrome 9; Muscular Dystrophy, Limb-girdle, Type 1c; Myopathy, Distal, Tateyama Type; Rippling Muscle Disease