{"symbol":"CAV3","synonyms":["LGMD1C","LQT9","MPDT","VIP-21"],"name":"caveolin 3","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]","ncbiEntrezGeneId":859,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/859","proteins":[{"symbol":"CAV3_HUMAN","href":"/api/1.0/protein/CAV3_HUMAN"}],"hgncRootFamilies":[]}