This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases.
This enzyme belongs to the family of ligases, to be specific those forming carbon-oxygen bonds in aminoacyl-tRNA and related compounds. The systematic name of this enzyme class is glycine:tRNAGly ligase (AMP-forming). Other names in common use include glycyl-tRNA synthetase, glycyl-transfer ribonucleate synthetase, glycyl-transfer RNA synthetase, glycyl-transfer ribonucleic acid synthetase, and glycyl translase. This enzyme participates in glycine, serine and threonine metabolism and aminoacyl-trna biosynthesis.
The peripheral neuropathyCharcot-Marie-Tooth disease type 2D (CMT2D) has been liked to dominant mutations in GARS. CMT2D usually manifests during the teenage years, and results in muscle weakness predominantly in the hands and feet. Two mouse models of CMT2D have been used to better understand the disease, identifying that the disorder is caused by a toxic gain of function of the mutant glycine-tRNA ligase protein. The CMT2D mice display peripheral nerve axon degeneration  and defective development of the neuromuscular junction.
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^Sang Lee J, Gyu Park S, Park H, Seol W, Lee S, Kim S (February 2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex". Biochem. Biophys. Res. Commun.291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID11829477.
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^Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW (Dec 2011). "Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.". PLoS Genet7 (12): e1002399. doi:10.1371/journal.pgen.1002399. PMID22144914.
^Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW (Sep 2006). "An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.". Neuron51 (6): 75–726. PMID16982418.
^Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM (Jul-Aug 2009). "An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.". Dis Model Mech2 (7-8): 359–373. doi:10.1242/dmm.002527. PMID19470612.Check date values in: |date= (help)
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Niyomporn B, Dahl JL, Strominger JL (1968). "Biosynthesis of the peptidoglycan of bacterial cell walls. IX Purification and properties of glycyl transfer ribonucleic acid synthetase from Staphylococcus aureus". J. Biol. Chem.243 (4): 773–8. PMID4295604.
Sang Lee J, Gyu Park S, Park H, et al. (2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex.". Biochem. Biophys. Res. Commun.291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID11829477.