CAV3(redirected from LGMD1C)
Also found in: Acronyms.
CAV3A 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.
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.
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