CAV3, Official Symbol CAV3provided by HGNC Official Full Name caveolin 3provided by HGNC Primary source HGNC:HGNC:1529 See related Ensembl:ENSG00000182533 MIM:601253; AllianceGenome:HGNC:1529 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21 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] Expression Biased expression in heart (RPKM 7.8), esophagus (RPKM 2.8) and 1 other tissue See more Orthologs mouse all