Analysis of CAV3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1829-LGZ)

Introduction

Official Full Name: caveolin 3<br />Also known as: LQT9; MPDT; RMD2; VIP21; LGMD1C; VIP-21<br />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.