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Gene Review

CAV3  -  caveolin 3

Homo sapiens

Synonyms: Caveolin-3, LGMD1C, LQT9, M-caveolin, VIP-21, ...
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Disease relevance of CAV3


Psychiatry related information on CAV3


High impact information on CAV3


Chemical compound and disease context of CAV3

  • The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness [9].

Biological context of CAV3


Anatomical context of CAV3


Associations of CAV3 with chemical compounds

  • RESULTS: CAV3 genetic analysis showed a heterozygous 3-bp microdeletion (328-330del) in affected individuals, resulting in the loss of a phenylalanine (Phe97del) in the transmembrane domain [3].
  • Gene analysis disclosed a heterozygous 80 G-->A substitution in the caveolin-3 gene that was identical to that of reported cases of elevated serum creatine kinase [17].
  • Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a substitution of a proline for a leucine at amino acid position 28 (P28L) [18].
  • In accordance with these observations, caveolin-3 mutants formed oligomers of a much larger size than wild type caveolin-3 and were excluded from caveolae-enriched membrane fractions as seen by sucrose density gradient centrifugation [19].
  • Here, we studied by electron microscopy, including freeze-fracture and lanthanum staining, the distribution of caveolae and the organization of the T-tubule system in caveolin-3 deficient human muscle fibers [20].

Physical interactions of CAV3


Co-localisations of CAV3


Regulatory relationships of CAV3


Other interactions of CAV3

  • The immunoprecipitation data are consistent with the parallel observation that dysferlin immunostaining is not normal in LGMD1C muscles [13].
  • Caveolin-3 transcript levels increased in 82% of the cohort, along with a 2.5-fold induction of caveolin-2 [26].
  • Human caveolin 3 protein contains the 'caveolin signature sequence' and the 33 amino acids spanning intramembrane domain common to all caveolins [27].
  • Furthermore, we provide evidence that FAT/CD36 expression is significantly higher in type 1 compared with type 2 fibers, whereas caveolin-3 expression is significantly higher in type 2 fibers than in type 1 fibers [22].
  • We show that (i) these BACs contain all four exons of the oxytocin receptor gene and (ii) that the genes encoding caveolin-3 and the oxytocin receptor are located approximately 7-10 kb apart and in the opposite orientation [28].

Analytical, diagnostic and therapeutic context of CAV3


  1. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Betz, R.C., Schoser, B.G., Kasper, D., Ricker, K., Ramírez, A., Stein, V., Torbergsen, T., Lee, Y.A., Nöthen, M.M., Wienker, T.F., Malin, J.P., Propping, P., Reis, A., Mortier, W., Jentsch, T.J., Vorgerd, M., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  2. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Kubisch, C., Schoser, B.G., von Düring, M., Betz, R.C., Goebel, H.H., Zahn, S., Ehrbrecht, A., Aasly, J., Schroers, A., Popovic, N., Lochmüller, H., Schröder, J.M., Brüning, T., Malin, J.P., Fricke, B., Meinck, H.M., Torbergsen, T., Engels, H., Voss, B., Vorgerd, M. Ann. Neurol. (2003) [Pubmed]
  3. A CAV3 microdeletion differentially affects skeletal muscle and myocardium. Cagliani, R., Bresolin, N., Prelle, A., Gallanti, A., Fortunato, F., Sironi, M., Ciscato, P., Fagiolari, G., Bonato, S., Galbiati, S., Corti, S., Lamperti, C., Moggio, M., Comi, G.P. Neurology (2003) [Pubmed]
  4. Molecular and muscle pathology in a series of caveolinopathy patients. Fulizio, L., Chiara Nascimbeni, A., Fanin, M., Piluso, G., Politano, L., Nigro, V., Angelini, C. Hum. Mutat. (2005) [Pubmed]
  5. Caveolin-3 upregulation activates beta-secretase-mediated cleavage of the amyloid precursor protein in Alzheimer's disease. Nishiyama, K., Trapp, B.D., Ikezu, T., Ransohoff, R.M., Tomita, T., Iwatsubo, T., Kanazawa, I., Hsiao, K.K., Lisanti, M.P., Okamoto, T. J. Neurosci. (1999) [Pubmed]
  6. Molecular physiology of low-voltage-activated t-type calcium channels. Perez-Reyes, E. Physiol. Rev. (2003) [Pubmed]
  7. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A., Volonte, D., Galbiati, F., Cordone, G., Bricarelli, F.D., Lisanti, M.P., Zara, F. Nat. Genet. (1998) [Pubmed]
  8. Caveolae and caveolins. Parton, R.G. Curr. Opin. Cell Biol. (1996) [Pubmed]
  9. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F.D., Cordone, G., Lisanti, M.P., Minetti, C. Neurology (2000) [Pubmed]
  10. Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. Van den Bergh, P.Y., Gérard, J.M., Elosegi, J.A., Manto, M.U., Kubisch, C., Schoser, B.G. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  11. Phenotypic variability associated with Arg26Gln mutation in caveolin3. Fee, D.B., So, Y.T., Barraza, C., Figueroa, K.P., Pulst, S.M. Muscle Nerve (2004) [Pubmed]
  12. Caveolin-3 in muscular dystrophy. McNally, E.M., de Sá Moreira, E., Duggan, D.J., Bönnemann, C.G., Lisanti, M.P., Lidov, H.G., Vainzof, M., Passos-Bueno, M.R., Hoffman, E.P., Zatz, M., Kunkel, L.M. Hum. Mol. Genet. (1998) [Pubmed]
  13. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Matsuda, C., Hayashi, Y.K., Ogawa, M., Aoki, M., Murayama, K., Nishino, I., Nonaka, I., Arahata, K., Brown, R.H. Hum. Mol. Genet. (2001) [Pubmed]
  14. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hernández-Deviez, D.J., Martin, S., Laval, S.H., Lo, H.P., Cooper, S.T., North, K.N., Bushby, K., Parton, R.G. Hum. Mol. Genet. (2006) [Pubmed]
  15. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. Tang, Z., Scherer, P.E., Okamoto, T., Song, K., Chu, C., Kohtz, D.S., Nishimoto, I., Lodish, H.F., Lisanti, M.P. J. Biol. Chem. (1996) [Pubmed]
  16. Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Capanni, C., Sabatelli, P., Mattioli, E., Ognibene, A., Columbaro, M., Lattanzi, G., Merlini, L., Minetti, C., Maraldi, N.M., Squarzoni, S. Exp. Mol. Med. (2003) [Pubmed]
  17. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Tateyama, M., Aoki, M., Nishino, I., Hayashi, Y.K., Sekiguchi, S., Shiga, Y., Takahashi, T., Onodera, Y., Haginoya, K., Kobayashi, K., Iinuma, K., Nonaka, I., Arahata, K., Itoyama, Y., Itoyoma, Y. Neurology (2002) [Pubmed]
  18. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. Merlini, L., Carbone, I., Capanni, C., Sabatelli, P., Tortorelli, S., Sotgia, F., Lisanti, M.P., Bruno, C., Minetti, C. J. Neurol. Neurosurg. Psychiatr. (2002) [Pubmed]
  19. Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. Galbiati, F., Volonte, D., Minetti, C., Chu, J.B., Lisanti, M.P. J. Biol. Chem. (1999) [Pubmed]
  20. Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Minetti, C., Bado, M., Broda, P., Sotgia, F., Bruno, C., Galbiati, F., Volonte, D., Lucania, G., Pavan, A., Bonilla, E., Lisanti, M.P., Cordone, G. Am. J. Pathol. (2002) [Pubmed]
  21. Evidence for cardiac sodium-calcium exchanger association with caveolin-3. Bossuyt, J., Taylor, B.E., James-Kracke, M., Hale, C.C. FEBS Lett. (2002) [Pubmed]
  22. Sarcolemmal FAT/CD36 in human skeletal muscle colocalizes with caveolin-3 and is more abundant in type 1 than in type 2 fibers. Vistisen, B., Roepstorff, K., Roepstorff, C., Bonen, A., van Deurs, B., Kiens, B. J. Lipid Res. (2004) [Pubmed]
  23. Identification of caveolae and detection of caveolin in normal human osteoblasts. Lofthouse, R.A., Davis, J.R., Frondoza, C.G., Jinnah, R.H., Hungerford, D.S., Hare, J.M. The Journal of bone and joint surgery. British volume. (2001) [Pubmed]
  24. Caveolin is an activator of insulin receptor signaling. Yamamoto, M., Toya, Y., Schwencke, C., Lisanti, M.P., Myers, M.G., Ishikawa, Y. J. Biol. Chem. (1998) [Pubmed]
  25. Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3. Cronk, L.B., Ye, B., Kaku, T., Tester, D.J., Vatta, M., Makielski, J.C., Ackerman, M.J. Heart rhythm : the official journal of the Heart Rhythm Society (2007) [Pubmed]
  26. Mechanical unloading increases caveolin expression in the failing human heart. Uray, I.P., Connelly, J.H., Frazier, O.H., Taegtmeyer, H., Davies, P.J. Cardiovasc. Res. (2003) [Pubmed]
  27. Molecular cloning of human caveolin 3. Biederer, C., Ries, S., Drobnik, W., Schmitz, G. Biochim. Biophys. Acta (1998) [Pubmed]
  28. Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. Sotgia, F., Minetti, C., Lisanti, M.P. FEBS Lett. (1999) [Pubmed]
  29. Consequences of a novel caveolin-3 mutation in a large German family. Fischer, D., Schroers, A., Blümcke, I., Urbach, H., Zerres, K., Mortier, W., Vorgerd, M., Schröder, R. Ann. Neurol. (2003) [Pubmed]
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