Human Caveolin 3 (CAV-3) ELISA Kit | CAV-3 elisa kit
Human Caveolin 3 (CAV-3) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Motility/polarity/chemotaxis; Dystrophin complex; Extracellular matrix; Cell development/differentiation
Chromosomal Location of Human Ortholog: 3p25
Cellular Component: Golgi membrane; dystrophin-associated glycoprotein complex; cell surface; endoplasmic reticulum; T-tubule; plasma membrane; caveola; neuromuscular junction; Z disc; vesicle; sarcolemma; lipid raft
Molecular Function: protein C-terminus binding; protein binding; sodium channel regulator activity; calcium channel regulator activity; protein complex binding; protein complex scaffold; nitric-oxide synthase binding; potassium channel inhibitor activity; alpha-tubulin binding
Biological Process: negative regulation of MAP kinase activity; muscle development; positive regulation of microtubule polymerization; T-tubule organization and biogenesis; negative regulation of cell size; glucose homeostasis; regulation of heart contraction; cytoplasmic microtubule organization and biogenesis; muscle maintenance; elevation of cytosolic calcium ion concentration; protein localization; cardiac muscle cell development; regulation of transforming growth factor beta receptor signaling pathway; plasma membrane organization and biogenesis; positive regulation of cell proliferation; regulation of skeletal muscle contraction; cell growth; cell differentiation; regulation of nerve growth factor receptor activity; myoblast fusion; negative regulation of calcium ion transport; negative regulation of nitric-oxide synthase activity; negative regulation of MAPKKK cascade; regulation of heart rate; actin filament organization; regulation of protein kinase B signaling cascade; endocytosis; nucleus localization; cholesterol homeostasis; regulation of membrane potential; triacylglycerol metabolic process; plasma membrane repair; negative regulation of protein kinase activity; lipid raft organization and biogenesis
Disease: Creatine Phosphokinase, Elevated Serum; Long Qt Syndrome 9; Rippling Muscle Disease; Myopathy, Distal, Tateyama Type; Muscular Dystrophy, Limb-girdle, Type 1c; Cardiomyopathy, Familial Hypertrophic, 1
Research Articles on CAV-3
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Product Notes
The Human CAV-3 cav3 (Catalog #AAA9311452) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9311452 ELISA Kit recognizes Human CAV-3. It is sometimes possible for the material contained within the vial of "Caveolin 3 (CAV-3), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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