CAV3

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolCAV3
Namecaveolin 3
Typeprotein-coding
Sourcemygene

Summary

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 mus

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This is an externally resolved entity

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