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Cat No | BMA-1402 |
Conjugate | |
Type | 重组兔多抗 |
Source | Rabbit |
Size | 50 uL |
Application | Immunogen |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS with 0.02% sodium azide, 0.05% BSA,50% glycerol, pH7.3. |
Species | Human |
Storage | Store at -20℃. Avoid freeze / thaw cycles. |
Synonyms | LGMD1C;LQT9;VIP-21;VIP21 |
Purification | Affinity purification |
MolecularWeight | 19KDa |
Description | |
Background | 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. |