The gene cav2 encodes caveolin-2, a membrane-bound scaffolding protein that is a core component of caveolae. It localizes to the plasma membrane and functions in lipid homeostasis and vesicular traffic...[+]

The gene cav2 encodes caveolin-2, a membrane-bound scaffolding protein that is a core component of caveolae. It localizes to the plasma membrane and functions in lipid homeostasis and vesicular trafficking. Expression is found in the developing brain, eye, neural tube, somites, pronephros, and branchial arches. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD