靶标:
CAV3
产品别名:
LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21; CAV3; caveolin 3; caveolin 3; caveolin-3; M-caveolin; cavolin 3; 细胞质膜微囊蛋白-3;
背景信息:
Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. 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.