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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.
Read more about gene names and symbols on the About page.
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 myosin superfamily (myosin superfamily).
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? in the Handbook.
How are changes in the MYH6 gene related to health conditions?
Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the MYH6 gene.
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.
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? 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?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding MYH6?
acids ; actin ; amino acid ; atrial ; bradycardia ; cardiac ; cardiomyopathy ; cell ; congenital ; contraction ; dilated ; domain ; fainting ; familial ; gene ; heart failure ; hypertrophic ; hypertrophy ; MHC ; myosin ; myosin heavy chain ; pacemaker ; population ; protein ; septal defect ; septum ; sinus ; syncope ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook.