The gene cav3 encodes a membrane-bound scaffolding protein that is a structural component of caveolae. In developing embryos, cav3 mRNA is expressed in somites and the heart. The protein localizes to t...[+]

The gene cav3 encodes a membrane-bound scaffolding protein that is a structural component of caveolae. In developing embryos, cav3 mRNA is expressed in somites and the heart. The protein localizes to the muscle cell membrane and is involved in T-tubule formation and organization in skeletal and cardiac myocytes, playing a role in calcium handling and excitation-contraction coupling. [-]

             obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
             hypertrophic cardiomyopathy 1
             long QT syndrome 1
             long QT syndrome 9
             distal myopathy Tateyama type
             isolated elevated serum creatine phosphokinase levels

          CREATINE PHOSPHOKINASE, ELEVATED SERUM
          LONG QT SYNDROME 9; LQT9
          RIPPLING MUSCLE DISEASE 2; RMD2
          MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT

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