Full name: caveolin 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21

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

Gene size: 12957bp

Exon count: 2