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Genetics Home Reference: your guide to understanding genetic conditions
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MYH6

Reviewed August 2013

What is the official name of the MYH6 gene?

The official name of this gene is “myosin, heavy chain 6, cardiac muscle, alpha.”

MYH6 is the gene's official symbol. The MYH6 gene is also known by other names, listed below.

What is the normal function of the MYH6 gene?

The MYH6 gene provides instructions for making a protein known as the cardiac alpha (α)-myosin heavy chain. This protein is found in heart (cardiac) muscle cells, where it forms part of a larger protein called type II myosin. Type II myosin helps generate the mechanical force that is needed for cardiac muscle to contract, allowing the heart to pump blood to the rest of the body.

Type II myosin is one of the major components of cell structures called sarcomeres. These structures are the basic units of muscle contraction. Sarcomeres are composed of thick filaments made up of type II myosin and thin filaments made up of another protein called actin. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. Sarcomeres also appear to have an important role in the early development of structures in the heart.

Does the MYH6 gene share characteristics with other genes?

The MYH6 gene belongs to a family of genes called myosins (myosins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the MYH6 gene related to health conditions?

sick sinus syndrome - increased risk from variations of the MYH6 gene

At least one variation of the MYH6 gene has been associated with an increased risk of developing sick sinus syndrome. This condition affects the function of the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The variation, which was identified in the Icelandic population, changes a single protein building block (amino acid) in the α-myosin heavy chain. Specifically, it replaces the amino acid arginine with the amino acid tryptophan at protein position 721 (written as Arg721Trp). Researchers found that about half of the people in their sample who had the Arg721Trp variation developed sick sinus syndrome during their lifetime, compared with about 6 percent of people who did not carry the variation. They speculated that the variation may alter the structure of the α-myosin heavy chain and disrupt its usual role in cardiac muscle contraction. These changes could alter the way the heart beats in some people, leading to an abnormally slow heartbeat (bradycardia) and related symptoms such as dizziness, light-headedness, and fainting (syncope).

other disorders - caused by mutations in the MYH6 gene

Mutations in the MYH6 gene have been found to cause several additional heart conditions. These include congenital heart defects, particularly atrial-septal defect (ASD), which is a hole in the wall (septum) that separates the two upper chambers of the heart (the atria). Most of the MYH6 gene mutations associated with ASD affect a part of the α-myosin heavy chain known as the head domain. This part of the protein is involved in attaching (binding) type II myosin to actin. Abnormal interaction between these two proteins may disrupt early heart development, leading to heart defects such as ASD.

MYH6 gene mutations can also cause two diseases of the cardiac muscle, dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). DCM weakens and enlarges the heart, while HCM is characterized by thickening (hypertrophy) of the cardiac muscle. Both of these conditions prevent the heart from pumping blood efficiently and increase the risk of heart failure and sudden death. Mutations associated with DCM and HCM can affect any part of the α-myosin heavy chain, and most change single amino acids in the protein. These changes likely alter the α-myosin heavy chain in ways that affect the structure and function of cardiac muscle.

Where is the MYH6 gene located?

Cytogenetic Location: 14q12

Molecular Location on chromosome 14: base pairs 23,380,732 to 23,409,621

The MYH6 gene is located on the long (q) arm of chromosome 14 at position 12.

The MYH6 gene is located on the long (q) arm of chromosome 14 at position 12.

More precisely, the MYH6 gene is located from base pair 23,380,732 to base pair 23,409,621 on chromosome 14.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MYH6?

You and your healthcare professional may find the following resources about MYH6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYH6 gene or gene products?

  • alpha-MHC
  • ASD3
  • CMD1EE
  • CMH14
  • MYH6_HUMAN
  • MYHC
  • MYHCA
  • myHC-alpha
  • myosin-6
  • myosin heavy chain 6
  • myosin heavy chain, cardiac muscle alpha isoform
  • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • SSS3

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MYH6?

acids ; actin ; amino acid ; arginine ; atrial ; bradycardia ; cardiac ; cardiomyopathy ; cell ; congenital ; contraction ; dilated ; domain ; fainting ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; MHC ; muscle cells ; myosin ; myosin heavy chain ; pacemaker ; population ; protein ; septal defect ; septum ; sinus ; syncope ; syndrome ; tryptophan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9. (http://www.ncbi.nlm.nih.gov/pubmed/15998695?dopt=Abstract)
  • Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010 Oct 15;19(20):4007-16. doi: 10.1093/hmg/ddq315. Epub 2010 Jul 23. (http://www.ncbi.nlm.nih.gov/pubmed/20656787?dopt=Abstract)
  • Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9. (http://www.ncbi.nlm.nih.gov/pubmed/20215591?dopt=Abstract)
  • Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781. (http://www.ncbi.nlm.nih.gov/pubmed/21378987?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4624)
  • Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PLoS One. 2011;6(12):e28872. doi: 10.1371/journal.pone.0028872. Epub 2011 Dec 14. (http://www.ncbi.nlm.nih.gov/pubmed/22194935?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: September 15, 2014