Gene Symbol | MYH6 |
Entrez Gene ID | 4624 |
Full Name | myosin heavy chain 6 |
Synonyms | ASD3,CMD1EE,CMH14,MYHC,MYHCA,SSS3,alpha-MHC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, hypertrophic, 14, 613251 (3); Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); {Sick sinus syndrome 3}, 614090 (3) |