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]
Immunogen
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Recombinant fusion protein containing a sequence corresponding to amino acids 1-151 of human Caveolin-3 (P56539).
Anwendung
WB, IHC
Lagerklassenschlüssel
10 - Combustible liquids
WGK
WGK 1
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