Aliases for CAV3 Gene
External Ids for CAV3 Gene
Previous GeneCards Identifiers for CAV3 Gene
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]
GeneCards Summary for CAV3 Gene
CAV3 (Caveolin 3) is a Protein Coding gene. Diseases associated with CAV3 include Rippling Muscle Disease and Muscular Dystrophy, Limb-Girdle, Type Ic. Among its related pathways are Focal Adhesion and Bacterial invasion of epithelial cells. GO annotations related to this gene include enzyme binding and protein C-terminus binding. An important paralog of this gene is CAV1.
UniProtKB/Swiss-Prot for CAV3 Gene
May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress.