CAV3

CAV3

A gene on chromosome 3p25 that encodes a caveolin that which functions as a component of the caveolae plasma membranes found in most cell types, serving as scaffolding scaffolding proteins for organising and concentrating caveolin-interacting molecules.

Molecular pathology
CAV3 mutations lead to interference with protein oligomerisation or intracellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease.
References in periodicals archive ?
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .
6) The genes involved in the recent phenotypes LQT9 to LQT13 are; CAV3, SCN4B, AKAP9, SNTA1 and KCNJ5, respectively.
He will highlight several strategies, including amplification of genes through one single set of PCR conditions and resequencing through automated primer design tools to seek primers for all salient portions of genes, such as DMD, CAV3, TRIM32, CAPN3, FKRP, FCMD, DYSF, SGCA, SGCB, SGCD, SGCG, and NEB genes.