CAV3

(redirected from caveolin-3)

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 ?
McArdle's syndrome, carnitine palmitoyltransferase deficiency, Becker's syndrome, and disorders of caveolin-3 may be 'silent myopathies' that only present with symptoms and elevated CPK levels following exercise.
Caveolin-1 is a 21-kDa integral membrane protein and one of the major structural components of caveolae in most mammalian cells, along with caveolin-2 and caveolin-3.
2]AR that was not co-localized with caveolin-3 was clustered into domains on the order of ca.