Literature associating CAV3 and Jervell-Lange Nielsen syndrome
Caveolin 3; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae.
Synonyms: CAV3, CAV3p, hCAV3, A0A024R2D8, P56539 ...