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Genetics Home Reference: your guide to understanding genetic conditions
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GARS

Reviewed January 2010

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.

Does the GARS gene share characteristics with other genes?

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.

How are changes in the GARS gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the GARS gene

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.

distal hereditary motor neuropathy, type V - caused by mutations in the GARS gene

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.

Where is the GARS gene located?

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.

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.

Where can I find additional information about GARS?

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.

What other names do people use for the GARS gene or gene products?

  • CMT2D
  • DSMAV
  • glycine tRNA ligase
  • GlyRS
  • SMAD1
  • SYG_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GARS?

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).

References

  • Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. Epub 2003 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/12690580?dopt=Abstract)
  • Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41):10397-406. (http://www.ncbi.nlm.nih.gov/pubmed/17035524?dopt=Abstract)
  • OMIM: GLYCYL-tRNA SYNTHETASE (http://omim.org/entry/600287)
  • James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology. 2006 Nov 14;67(9):1710-2. Erratum in: Neurology. 2007 Feb 27;68(9):711. (http://www.ncbi.nlm.nih.gov/pubmed/17101916?dopt=Abstract)
  • Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. Epub 2007 Jun 26. (http://www.ncbi.nlm.nih.gov/pubmed/17595294?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2617)
  • Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-14. Epub 2005 Jul 13. (http://www.ncbi.nlm.nih.gov/pubmed/16014653?dopt=Abstract)
  • Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):9976-81. Epub 2007 Jun 1. (http://www.ncbi.nlm.nih.gov/pubmed/17545306?dopt=Abstract)

 

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.

 
Reviewed: January 2010
Published: December 22, 2014