Full name: caveolin 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: Cav-3; M-cav

Summary: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]

Expression: Biased expression in heart adult (RPKM 48.7), limb E14.5 (RPKM 10.8) and 6 other tissues

Gene size: 13368bp

Exon count: 2