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 ?
Caveolin-3 associates with developing T-tubules during muscle differentiation.
Das, "Generation of survival signal by differential interaction of p38MAPK[alpha] and p38MAPK[beta] with caveolin-1 and caveolin-3 in the adapted heart," Journal of Molecular and Cellular Cardiology, vol.
Bruno et al., "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy," Nature Genetics, vol.
The caveolin family consists of 3 members, caveolin-1, caveolin-2, and caveolin-3. Caveolin-1, which reportedly interacts with AR [18], is a possible modulator of AR-mediated transactivation.
Caveolin-2 is most prominently expressed in fibrous and adipose tissue and caveolin-3 is restricted to striated and smooth muscle.
So far, 3 members of the caveolin family have been found in mammals: caveolin-1, caveolin-2 and caveolin-3. Among these, caveolin-1 had two subtypes - alpha and beta (Williams and Lisanti, 2004).
Minimal changes with i(c) Sarcoglycan abnormal IHC deficient i(d) Merosin deficient i(e) Collagen VI deficient i(f) Dysferlin deficient i(g) Caveolin-3 deficient i(h) Emerin deficient i(i) Normal IHC i(j) Nondiagnostic IHC D.
O'Hara et al., "Caveolin-3 regulates compartmentation of cardiomyocyte beta2-adrenergic receptor-mediated cAMP signaling," Journal of Molecular and Cellular Cardiology, vol.
Endothelial NOS in cardiomyocytes is associated with caveolin-3, a muscle-specific isoform in caveolae protein layers [7-9].
Maeda, "Immunocytochemical localization of caveolin-3 in the synoviocytes of the rat temporomandibular joint during development," Anatomical Record, vol.
This modification profoundly impacts on myogenin ability to bind DNA at the promoter regions to activate downstream gene expression (e.g., caveolin-3) and finally result in muscle atrophy (Table 2).
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.