Short Description: 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]. More information related to gene Caveolin 3.
Synonyms and alternative names related to Caveolin 3
caveolin 3 (CAV3)
caveolin 3 (Cav3)
caveolin 3 (cav3)
caveolin 3 (LOC733765)
caveolin-3 (cav-3)
AI385751
Cav-3
CAV3
cav3
caveolin-3
im:6902906
LGMD1C
LOC733765
LQT9
M-cav
VIP-21
VIP21
zgc:109710
Gene-IDs for different species
Protein level used designations for Caveolin 3
M-caveolin
caveolin-3
calveolin 3
caveolin 3
Caveolin-3
Proteomics products related to Caveolin 3 Gene
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