Gene: MYH6

Alternate names for this Gene: ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3|alpha-MHC

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: myosin heavy chain 6

Type of Gene: protein-coding

rs422068 in MYH6 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs267606903 in MYH6 gene and Atrial Septal Defect 3 PMID 15735645 2005 Mutation in myosin heavy chain 6 causes atrial septal defect.

rs143978652 in MYH6 gene and Cardiomyopathy, Dilated, 1EE PMID 15998695 2005 Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

rs863225269 in MYH6 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 23674513 2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

PMID 21835320 2011 Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 21302287 2011 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

PMID 20173211 2010 Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

rs267606904 in MYH6 gene and Cardiomyopathy, Familial Hypertrophic, 14 PMID 11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PMID 15998695 2005 Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

rs365990 in MYH6 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs452036 in MYH6 gene and P wave duration (observable entity) PMID 28794112 2017 Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

rs365990 in MYH6 gene and RESTING HEART RATE PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

PMID 29769521 2018 Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.

PMID 23183192 2013 Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.

PMID 20639392 2010 Genome-wide association analysis identifies multiple loci related to resting heart rate.

rs387906656 in MYH6 gene and SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO PMID 21378987 2011 A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

rs365990 in MYH6 gene and Sick Sinus Syndrome PMID 21378987 2011 A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

rs452036 in MYH6 gene and Systolic Pressure PMID 27618447 2016 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

rs365990 in MYH6 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.