Caveolin 3 (CAV3)

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VIP21; LGMD1C; LQT9; M-Caveolin

Caveolin 3 (CAV3)
Caveolin-3 is 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). Other mutations in Caveolin causes Long QT Syndrome. 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.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Caveolin 3 (CAV3)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Caveolin 3 (CAV3)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Caveolin 3 (CAV3)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Caveolin 3 (CAV3)CLIA Kit Customized Service Offer
n/aELISA Kit for Caveolin 3 (CAV3)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Caveolin 3 (CAV3)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Caveolin 3 (CAV3)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Caveolin 3 (CAV3)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Caveolin 3 (CAV3)CLIA Kit Customized Service Offer
n/aELISA Kit for Caveolin 3 (CAV3)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Caveolin 3 (CAV3)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Caveolin 3 (CAV3)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Caveolin 3 (CAV3)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Caveolin 3 (CAV3)CLIA Kit Customized Service Offer
n/aELISA Kit for Caveolin 3 (CAV3)ELISA Kit Customized Service Offer
  1. "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy."Nat. Genet. 18:365-368(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular cloning of human caveolin 3."Biochim. Biophys. Acta 1406:5-9(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Caveolin-3 in muscular dystrophy."Hum. Mol. Genet. 7:871-877(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members."J. Biol. Chem. 275:38048-38058(2000) [PubMed] [Europe PMC] [Abstract]
  8. "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle."Hum. Mol. Genet. 10:1761-1766(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Caveolin-3 undergoes SUMOylation by the SUMO E3 ligase PIASy: sumoylation affects G-protein-coupled receptor desensitization."J. Biol. Chem. 286:14830-14841(2011) [PubMed] [Europe PMC] [Abstract]
  10. "Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy."Hum. Mol. Genet. 9:2335-2340(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia."Neurology 54:1373-1376(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in the caveolin-3 gene: when are they pathogenic?"Am. J. Med. Genet. 99:303-307(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease."Nat. Genet. 28:218-219(2001) [PubMed] [Europe PMC] [Abstract]
  14. "A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation."Neurology 57:2273-2277(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene."J. Neurol. Neurosurg. Psych. 73:65-67(2002) [PubMed] [Europe PMC] [Abstract]
  16. ErratumJ. Neurol. Neurosurg. Psych. 74:142-142(2003)
  17. "Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy."Neurology 58:323-325(2002) [PubMed] [Europe PMC] [Abstract]
  18. ErratumNeurology 58:839-839(2002)
  19. "Consequences of a novel caveolin-3 mutation in a large German family."Ann. Neurol. 53:233-241(2003) [PubMed] [Europe PMC] [Abstract]
  20. "Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease."Ann. Neurol. 53:512-520(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene."Neurology 61:562-564(2003) [PubMed] [Europe PMC] [Abstract]
  22. "A CAV3 microdeletion differentially affects skeletal muscle and myocardium."Neurology 61:1513-1519(2003) [PubMed] [Europe PMC] [Abstract]
  23. "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy."Biochem. Biophys. Res. Commun. 313:178-184(2004) [PubMed] [Europe PMC] [Abstract]
  24. "A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia."Neuromuscul. Disord. 14:321-324(2004) [PubMed] [Europe PMC] [Abstract]
  25. "Two novel CAV3 gene mutations in Japanese families."Neuromuscul. Disord. 14:810-814(2004) [PubMed] [Europe PMC] [Abstract]
  26. "Autosomal recessive rippling muscle disease with homozygous CAV3 mutations."Ann. Neurol. 57:303-304(2005) [PubMed] [Europe PMC] [Abstract]
  27. "Molecular and muscle pathology in a series of caveolinopathy patients."Hum. Mutat. 25:82-89(2005) [PubMed] [Europe PMC] [Abstract]
  28. "A new missense mutation in caveolin-3 gene causes rippling muscle disease."J. Neurol. Sci. 243:61-64(2006) [PubMed] [Europe PMC] [Abstract]
  29. "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome."Circulation 114:2104-2112(2006) [PubMed] [Europe PMC] [Abstract]
  30. "Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3."Heart Rhythm 4:161-166(2007) [PubMed] [Europe PMC] [Abstract]