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]

  • Plasma membrane repair
  • Regulation of heart rate
  • Negative regulation of protein kinase activity
  • Triglyceride metabolic process
  • Lipid transport
  • Rippling muscle disease 2
  • Myopathy, distal, tateyama type
  • Long qt syndrome 9
  • Creatine phosphokinase, elevated serum
  • Cardiomyopathy, familial hypertrophic, 1

CAV3 Localizations – Subcellular Localization Database

Gene Location