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The official name of this gene is “glycyl-tRNA synthetase.”
GARS is the gene's official symbol. The GARS gene is also known by other names, listed below.
The GARS gene provides instructions for making an enzyme called glycyl-tRNA synthetase. This enzyme is found in all cell types and plays an important role in the production (synthesis) of proteins. During protein synthesis, building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycyl-tRNA synthetase plays a role in adding the amino acid glycine at the proper place in a protein's chain of amino acids.
The GARS gene belongs to a family of genes called aaRS (aminoacyl tRNA synthetases).
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.
Researchers have identified a few mutations in the GARS gene that cause a form of Charcot-Marie-Tooth disease known as type 2D. These mutations change single amino acids used to make glycyl-tRNA synthetase. It is unclear how GARS gene mutations lead to type 2D Charcot-Marie-Tooth disease. The mutations probably reduce the activity of glycyl-tRNA synthetase. Scientists suggest that nerve cells may be especially sensitive to a decrease in the activity of this enzyme. In particular, a reduction in glycyl-tRNA synthetase activity may impair the ability of specialized outgrowths from nerve cells (axons) to transmit nerve impulses.
Several GARS gene mutations have been identified in individuals with distal hereditary motor neuropathy, type V. These mutations change single amino acids used to make glycyl-tRNA synthetase. It is unclear how GARS gene mutations lead to this disorder. The mutations probably reduce the activity of glycyl-tRNA synthetase. As in Charcot-Marie-Tooth disease, a reduction in glycyl-tRNA synthetase activity may impair transmission of nerve impulses.
Cytogenetic Location: 7p15
Molecular Location on chromosome 7: base pairs 30,594,564 to 30,634,032
The GARS gene is located on the short (p) arm of chromosome 7 at position 15.
More precisely, the GARS gene is located from base pair 30,594,564 to base pair 30,634,032 on chromosome 7.
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 GARS 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.
acids ; amino acid ; axons ; cell ; distal ; enzyme ; gene ; glycine ; hereditary ; ligase ; motor ; neuropathy ; protein ; synthesis ; tRNA
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.