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 |
---|---|---|---|---|
CAV3BA-20-REGO | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-REGR | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-ORGR | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-GOGR | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-GRRE | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-GROR | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-GRGO | 20 (40 μL) | 200 μL | Request Pricing | |
CAV3BA-20-AQOR | 20 (40 μL) | 200 μL | Request Pricing |
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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