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Products Polyclonal Anti-CAV3
| Catalogue number: | PA1523 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Immunohistochemistry, Western Blot |
| Size: | 100ug/vial |
| Gene: | CAV3 |
| Swiss prot: | P56539 |
| Form: | Lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | "At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing. " |
| Scientific background: | CAV3, Caveolin-3, is a protein that in humans is encoded by the CAV3 gene. The CAV3 gene contains 2 exons. This gene is mapped to chromosome 3p25.3. 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), Hyperkalemia 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. |
| References: | 1. Betz, R. C., Schoser, B. G. H., Kasper, D., Ricker, K., Ramirez, A., Stein, V., Torbergsen, T., Lee, Y.-A., Nothen, M. M., Wienker, T. F., Malin, J.-P., Propping, P., Reis, A., Mortier, W., Jentsch, T. J., Vorgerd, M., Kubisch, C.Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.Nature Genet. 28: 218-219, 2001. 2. Gazzerro, E., Sotgia, F., Bruno, C., Lisanti, M. P., Minetti, C.Caveolinopathies: from the biology of caveolin-3 to human diseases.Europ. J. Hum. Genet. 18: 137-145, 2010. 3. Hayashi, T., Arimura, T., Ueda, K., Shibata, H., Hohda, S., Takahashi, M., Hori, H., Koga, Y., Oka, N., Imaizumi, T., Yasunami, M., Kimura, A.Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.Biochem. Biophys. Res. Commun. 313: 178-184, 2004. |
| Additional info: | A synthetic peptide corresponding to a sequence at the C-terminal of human CAV3, identical to the related rat and mouse sequences. |
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