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Most gliomas displayed strong cytoplasmic immunoreactivity in a subset of cells. The remaining tumors were mainly negative.
GENE INFORMATION
Gene name
CAV3 (HGNC Symbol)
Synonyms
LGMD1C, LQT9, VIP-21, VIP21
Description
Caveolin 3 (HGNC Symbol)
Entrez gene 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 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]