|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Genes in the MYBP gene family provide instructions for making myosin binding proteins. These proteins have the ability to attach (bind) to another protein called myosin. Two types of myosin binding protein are produced from the instructions carried in the genes in this family: myosin binding protein C (MyBP-C) and myosin binding protein H (MyBP-H). There are three versions of MyBP-C, each produced from a different gene; the fast type and slow type are found in muscles that help the body move (skeletal muscles), and the cardiac type is found in heart muscles. MyBP-H is found in skeletal muscles and a specialized tissue of the heart.
Myosin plays an important role in muscle contraction. In muscle cells, myosin proteins organize to form thick filaments that are part of structures called sarcomeres, the basic unit of muscle contraction. Interaction with MyBP-C helps myosin proteins properly organize into thick filaments. MyBP-C stabilizes thick filaments, keeping them from being broken down. In the heart, cardiac MyBP-C is thought to regulate the rate of muscle contraction. Mutations in the gene that provides instructions for making cardiac MyBP-C are a common cause of familial hypertrophic cardiomyopathy, a heart condition that can cause abnormal heart rhythms and sudden death.
The role of MyBP-H is not fully understood. MyBP-H can bind myosin and help organize thick filaments, but it is unclear what role this protein plays in the body.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the MYBP gene family: MYBPC1 and MYBPC3.
Genetics Home Reference includes these conditions related to genes in the MYBP gene family:
You may find the following resources about the MYBP gene family helpful.
cardiac ; cardiomyopathy ; contraction ; familial ; gene ; hypertrophic ; muscle cells ; myosin ; protein ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the MYBP gene family.
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.