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The official name of this gene is “myosin, heavy chain 3, skeletal muscle, embryonic.”
MYH3 is the gene's official symbol. The MYH3 gene is also known by other names, listed below.
The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and between cells. Thick filaments made of myosin, along with thin filaments of another protein called actin, are the primary components of muscle fibers and are important for muscle tensing (contraction).
Each myosin protein complex consists of two pairs of light chains, which regulate the complex and are produced from several other genes, and two heavy chains such as that produced from the MYH3 gene. The heavy chains each have two parts: a head region and a tail region. The head region interacts with actin and includes a segment that attaches (binds) to ATP. ATP is a molecule that supplies energy for cells' activities, including muscle contraction. The long tail region of the myosin heavy chain interacts with other proteins, including the tail regions of other myosins, enabling them to form thick filaments.
Embryonic skeletal muscle myosin heavy chain 3 forms part of a myosin protein complex that is active before birth and is important for normal development of the muscles.
The MYH3 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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least 26 MYH3 gene mutations have been identified in people with Freeman-Sheldon syndrome. Researchers suggest that these mutations may affect the way the embryonic skeletal muscle myosin heavy chain 3 protein interacts with ATP, reducing the ability of fetal muscle cells to contract. This impairment of muscle contraction may interfere with muscle development in the fetus, resulting in the contractures and other muscle and skeletal abnormalities associated with Freeman-Sheldon syndrome. It is unknown how MYH3 gene mutations may cause other features of this disorder.
At least 12 MYH3 gene mutations have been identified in people with Sheldon-Hall syndrome, a disorder similar to Freeman-Sheldon syndrome that affects muscle and skeletal development before birth. The MYH3 gene mutations that cause Sheldon-Hall syndrome are believed to interfere with the ability of embryonic skeletal muscle myosin heavy chain 3 protein to bind with actin and troponin (another molecule involved in muscle contraction). MYH3 gene mutations may also disrupt the formation of thick filaments.
Cytogenetic Location: 17p13.1
Molecular Location on chromosome 17: base pairs 10,628,525 to 10,657,308
The MYH3 gene is located on the short (p) arm of chromosome 17 at position 13.1.
More precisely, the MYH3 gene is located from base pair 10,628,525 to base pair 10,657,308 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MYH3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
actin ; ATP ; cell ; contraction ; embryonic ; fetus ; gene ; molecule ; myosin ; myosin heavy chain ; protein ; skeletal muscle ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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.