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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 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: cardiac muscle myosin heavy chain 7 beta; MyHC-alpha; MyHC-beta; MyHC-slow; myopathy, distal 1; Myosin heavy chain 6; Myosin heavy chain 7; Myosin heavy chain slow isoform; Myosin heavy chain, cardiac muscle alpha isoform; Myosin heavy chain, cardiac muscle beta isoform; myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1); myosin, heavy polypeptide 7, cardiac muscle, beta; Myosin-6; Myosin-7; rhabdomyosarcoma antigen MU-RMS-40.7A
Gene Aliases: alpha-MHC; ASD3; CMD1EE; CMD1S; CMH1; CMH14; MPD1; MYH6; MYH7; MYHC; MYHCA; MYHCB; SPMD; SPMM; SSS3
UniProt ID: (Human) P13533, (Human) P12883
Entrez Gene ID: (Human) 4624, (Human) 4625
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