URL of this page: https://medlineplus.gov/genetics/gene/gars1/

GARS1 gene

glycyl-tRNA synthetase
From Genetics Home Reference. Learn more

Normal Function

The GARS1 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.

Health Conditions Related to Genetic Changes

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease

More About This Health Condition

Distal hereditary motor neuropathy, type V

Several GARS1 gene mutations have been identified in individuals with distal hereditary motor neuropathy, type V. This disorder affects nerve cells in the spinal cord, resulting in muscle weakness and affecting movement of the hands and feet. The GARS1 gene mutations that cause distal hereditary motor neuropathy, type V change single amino acids used to make glycyl-tRNA synthetase. It is unclear how GARS1 gene mutations lead to this disorder. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in glycyl-tRNA synthetase activity may impair transmission of nerve impulses.

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, Zhang Q, Burgess RW, Cader MZ, Talbot K, Yang XL, Bennett DL, Schiavo G. Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3324-E3333. doi: 10.1073/pnas.1614557114. Epub 2017 Mar 28. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.