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CAV3 / Caveolin 3
caveolin 3
CAV3 / Caveolin 3 is 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.
| Gene Name: | caveolin 3 |
| Synonyms: | CAV3, Caveolin-3, Caveolin3, Caveolin 3, LGMD1C, VIP-21, VIP21, LQT9, M-caveolin |
| Target Sequences: | NM_001234 NP_001225.1 P56539 |
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