The gene myh6 encodes a myosin heavy chain protein that functions as a motor molecule with ATPase activity, converting chemical energy into mechanical force for muscle contraction. This protein localiz...[+]

The gene myh6 encodes a myosin heavy chain protein that functions as a motor molecule with ATPase activity, converting chemical energy into mechanical force for muscle contraction. This protein localizes to the sarcomere within striated muscle cells and is expressed in the heart and somites. It is a structural component of the thick filament in the myofibril. [-]

             hypertrophic cardiomyopathy 1
             hypertrophic cardiomyopathy 14
             dilated cardiomyopathy 1EE

          ATRIAL SEPTAL DEFECT 3; ASD3
          CARDIOMYOPATHY, DILATED, 1EE; CMD1EE
          CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14
          SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3

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