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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CAV3-20-RE | 20 (40 μL) | 200 μL |  |
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| CAV3-20-OR | 20 (40 μL) | 200 μL |  |
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| CAV3-20-GO | 20 (40 μL) | 200 μL |  |
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| CAV3-20-GR | 20 (40 μL) | 200 μL |  |
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| CAV3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CAV3
Gene Name : Caveolin 3
Chromosome : CHR 3: 873,379,9-874,676,4
Locus : 3p25.3
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