Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3.
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Protein Aliases: alpha cardiac MHC; alpha myosin; cardiac myosin heavy chain alpha isoform; cardiomyopathy, hypertrophic 1; MyHC-alpha; myosin 6; Myosin heavy chain 6; myosin heavy chain polypeptide 6 cardiac muscle adult; Myosin heavy chain, cardiac muscle alpha isoform; Myosin heavy chain, cardiac muscle alpha isoform (MyHC-alpha); myosin heavy chain, cardiac muscle, adult; myosin heavy chain, polypeptide 6, cardiac muscle, alpha; myosin, heavy polypeptide 6, cardiac muscle, alpha; myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1); Myosin-6
Gene Aliases: A830009F23Rik; AA517445; alpha-MHC; ASD3; CMD1EE; CMH14; MYH6; MYHC; Myhc-a; MYHCA; SSS3