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Reviewed February 2013
What is the official name of the MYBPC3 gene?
The official name of this gene is “myosin binding protein C, cardiac.”
MYBPC3 is the gene's official symbol. The MYBPC3 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 MYBPC3 gene?
The MYBPC3 gene provides instructions for making the cardiac myosin binding protein C (cardiac MyBP-C), which is found in heart (cardiac) muscle cells. In these cells, cardiac MyBP-C is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. 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. Regular contractions of cardiac muscle pump blood to the rest of the body.
In cardiac muscle sarcomeres, cardiac MyBP-C attaches to thick filaments and keeps them from being broken down. Cardiac MyBP-C has chemical groups called phosphate groups attached to it; when the phosphate groups are removed, cardiac MyBP-C is broken down, followed by the breakdown of the proteins of the thick filament. Cardiac MyBP-C also regulates the rate of muscle contraction, although the mechanism is not fully understood.
Does the MYBPC3 gene share characteristics with other genes?
The MYBPC3 gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing). It also belongs to a family of genes called MYBP (myosin binding proteins).
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 MYBPC3 gene related to health conditions?
Where is the MYBPC3 gene located?
Cytogenetic Location: 11p11.2
Molecular Location on chromosome 11: base pairs 47,352,956 to 47,374,252
The MYBPC3 gene is located on the short (p) arm of chromosome 11 at position 11.2.
More precisely, the MYBPC3 gene is located from base pair 47,352,956 to base pair 47,374,252 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MYBPC3?
You and your healthcare professional may find the following resources about MYBPC3 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 MYBPC3 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 MYBPC3?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 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.