Reviewed April 2007
What is the official name of the GARS gene?
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.
What is the normal function of the GARS gene?
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.
How are changes in the GARS gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the GARS gene
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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 replace one of the amino acids used to make glycyl-tRNA synthetase with an incorrect amino acid. It is unclear how GARS 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 change in glycyl-tRNA synthetase activity may impair the specialized outgrowths from nerve cells (axons) that transmit impulses to muscles and other nerve cells.
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distal hereditary motor neuropathy, type V - caused by mutations in the GARS gene
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Several GARS mutations have been identified in individuals with distal hereditary motor neuropathy, type V. These mutations replace one of the amino acids used to make glycyl-tRNA synthetase with an incorrect amino acid. It remains unclear how GARS mutations lead to this disorder. 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 change in glycyl-tRNA synthetase activity may impair the specialized outgrowths from nerve cells (axons) that transmit impulses to muscles and other nerve cells.
Where is the GARS gene located?
Cytogenetic Location: 7p14
Molecular Location on chromosome 7: base pairs 30,600,705 to 30,640,168
The GARS gene is located on the short (p) arm of chromosome 7 at position 14.
More precisely, the GARS gene is located from base pair 30,600,705 to base pair 30,640,168 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GARS?
What other names do people use for the GARS gene or gene products?
- CMT2D
- DSMAV
- glycine tRNA ligase
- GlyRS
- SMAD1
- SYG_HUMAN
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 GARS?
acids ;
amino acid ;
axons ;
cell ;
distal ;
enzyme ;
gene ;
glycine ;
ligase ;
motor ;
mutation ;
nerve cell ;
neuropathy ;
protein ;
synthesis ;
synthetases ;
tRNA
You may find definitions for these and many other terms in the Genetics Home Reference
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? in the Handbook.