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The official name of this gene is “glycogen synthase 1 (muscle).”
GYS1 is the gene's official symbol. The GYS1 gene is also known by other names, listed below.
The GYS1 gene provides instructions for making an enzyme called muscle glycogen synthase. Muscle glycogen synthase is produced in most cells but is most abundant in heart (cardiac) muscle and muscles used for movement (skeletal muscles). Muscle glycogen synthase helps link together molecules of the simple sugar glucose to form the complex sugar glycogen, which is a major source of stored energy in the body. Most glucose that is taken in from food is stored as glycogen in muscle cells. During contractions of the cardiac muscle or rapid or sustained movement of skeletal muscle, glycogen stored in muscle cells is broken down to supply the cells with energy.
The GYS1 gene belongs to a family of genes called glycosyltransferase group 1 domain containing (glycosyltransferase group 1 domain containing).
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 four mutations in the GYS1 gene have been found to cause a form of glycogen storage disease type 0 (GSD 0) that affects cardiac and skeletal muscle. Most GYS1 gene mutations that cause this condition lead to a lack of functional muscle glycogen synthase, resulting in a complete absence of glycogen in muscle cells. Normally, glycogen is formed from the leftover glucose that is not immediately used by cells after glucose is consumed during meals. In people with GSD 0, who cannot form glycogen, the extra sugar is released by the body. As a result, people with muscle GSD 0 do not have any stored energy, which leads to muscle pain, weakness, or episodes of fainting following moderate physical activity. Since there is no glycogen in cardiac muscle, affected individuals are also at an increased risk of cardiac arrest and sudden death, particularly after physical activity.
Cytogenetic Location: 19q13.3
Molecular Location on chromosome 19: base pairs 48,968,124 to 48,993,352
The GYS1 gene is located on the long (q) arm of chromosome 19 at position 13.3.
More precisely, the GYS1 gene is located from base pair 48,968,124 to base pair 48,993,352 on chromosome 19.
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 GYS1 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.
cardiac ; cardiac arrest ; enzyme ; fainting ; gene ; glucose ; glycogen ; muscle cells ; simple sugar ; skeletal muscle
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.