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.[7]
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.
Glycyl-tRNA synthetase has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis.[7]
The peripheral nerve diseases Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) have been liked to dominant mutations in GARS.[11][12] CMT2D usually manifests during the teenage years, and results in muscle weakness predominantly in the hands and feet.[13] 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.[14] The CMT2D mice display peripheral nerve axon degeneration [15][16] and defective development[17] and function[18]> of the neuromuscular junction.
^Sang Lee J, Gyu Park S, Park H, Seol W, Lee S, Kim S (Feb 2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex". Biochemical and Biophysical Research Communications. 291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID11829477.
Fraser MJ (May 1963). "Glycyl-RNA synthetase of rat liver: partial purification and effects of some metal ions on its activity". Canadian Journal of Biochemistry and Physiology. 41 (5): 1123–33. doi:10.1139/o63-128. PMID13959340.
Mudge SJ, Williams JH, Eyre HJ, Sutherland GR, Cowan PJ, Power DA (Mar 1998). "Complex organisation of the 5'-end of the human glycine tRNA synthetase gene". Gene. 209 (1–2): 45–50. doi:10.1016/S0378-1119(98)00007-9. PMID9524218.
Sang Lee J, Gyu Park S, Park H, Seol W, Lee S, Kim S (Feb 2002). "Interaction network of human aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex". Biochemical and Biophysical Research Communications. 291 (1): 158–64. doi:10.1006/bbrc.2002.6398. PMID11829477.
Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP (Mar 2006). "Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation". Neurology. 66 (5): 752–4. doi:10.1212/01.wnl.0000201275.18875.ac. PMID16534118. S2CID1143879.
James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K (Nov 2006). "Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene". Neurology. 67 (9): 1710–2. doi:10.1212/01.wnl.0000242619.52335.bc. PMID17101916. S2CID16491162.
