Overexpression of caveolin-1 in adult T-cell leukemia. Sawada S, Ishikawa C, Tanji H, Nakachi S, Senba M, Okudaira T, Uchihara JN, Taira N, Ohshiro K, Yamada Y, Tanaka Y, Uezato H, Ohshima K, Sasai K, Burgering BM, Duc Dodon M, Fujii M, Sunakawa H, Mori N.Blood. 2010 Mar 18;115(11):2220-30. Epub 2010 Jan 8.
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