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 ?
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for 'double trouble' overlapping syndromes.
To investigate the evolutionary relationships of calcium-related candidate DEGs, we extracted and compared amino acid sequences from eight species in vertebrata (cow, human, duck, mouse, rat, dog, cat, and chicken) regarding two candidate genes, myosin light chain 1 (MYL1) and caveolin 3 (CAV3).
C inhibits the Cav3.2 isoform of T-type calcium channels involved in neuropathic pain (37).
T-type calcium channels, called Cav3, control neuronal firing and signaling.
In the current study, we detected the mRNA of the three isoforms of the T-type calcium channel CACNA1G (T-type [Ca.sup.2+] channel, Cav3.1), CACNA1H (T-type [Ca.sup.2+] channel, Cav3.2), and CACNA1I (T-type [Ca.sup.2+] channel, Cav3.3).
Cacna1d ([Ca.sub.v]1.3), Cacna1h (Cav3.2), and Cacng4 ([Cav.sub.[gamma]]4) were downregulated in GK compared to control SAN.
Lee et al., "CaV3.1 is a tremorrhythm pacemaker in the inferior olive," Proceedings of the National Acadamy of Sciences of the United States of America, vol.
However, other receptors also seem to interact with ZIKV proteins, namely, the caveolin3 (CAV3) which establishes a PPI with M protein having a score of 0.6.
Malekova et al., "Effects of AP39, a novel triphenylphosphonium derivatised anethole dithiolethione hydrogen sulfide donor, on rat haemodynamic parameters and chloride and calcium Cav3 and RyR2 channels," Nitric Oxide, vol.
Based on this clue, the scientists removed one type of calcium channel, Cav3.1, and looked at how the absence of that channel's activity affected mouse brain function.