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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis.
基因功能參考文獻:
In support of GARS variant pathogenicity, our patient shows striking phenotypic overlap with other patients having ARS-related recessive diseases; this observation is consistent with the essential function of GARS in both cellular locations. In summary, our clinical, genetic, and functional analyses expand the phenotypic spectrum associated with GARS variants PMID: 28675565
In this Chinese Han population a novel Charcot-Marie-Tooth disease-associated gene mutations of GARS (c.794C>T) was discovered. PMID: 27862672
At the active site, a glycyl-AMP molecule is synthesized and is waiting for the transfer of the glycyl moiety to occur. PMID: 27261259
GlyRS functions as a chaperone that critically supports neddylation. PMID: 27348078
Data indicate that dimerization is required for the dominant neurotoxicity of disease-associated GARS mutations and provide a rapid, tractable model for studying newly identified GARS variants for a role in human disease. PMID: 27008886
one of the mRNAs isoforms tightly controls expression and localization of human GARS. PMID: 26327585
This study reports two crystal structures of human GlyRS variants, in the free form and in complex with tRNA(Gly) respectively, and reveal new aspects of the glycylation mechanism. PMID: 26797133
GARS mutations are an uncommon cause of Charcot-Marie-Tooth Disease (CMT) in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. PMID: 26244500
Our findings suggest that mutant GlyRS gains access to ectopic sub-compartments of the motor neuron, providing a possible explanation for the selective neuropathology caused by mutations in a widely expressed gene. PMID: 25972375
Expression of three CMT-mutant GARS proteins in Drosophila induces defects in motor performance and motor and sensory neuron morphology, and shortens lifespan. PMID: 26138142
The c.999G>T mutation is a novel mutation of the glycyl-tRNA synthetase gene that has not been previously reported. The phenotype of this family is Charcot-Marie-Tooth disease type 2D, which is first reported in Chinese population. PMID: 26000875
we propose that the disease-causing L129P mutant of glycyl-tRNA synthetase is linked to a distribution defect in peripheral nerves in vivo. PMID: 25218976
our data indicate that impaired function is a key component of GARS-mediated CMT disease and emphasize the need for careful genetic and functional evaluation before implicating a variant in disease onset. PMID: 25168514
This study presents genetic evidence for common mutant-specific interactions between two CMT-associated aminoacyl-tRNA synthetases, lending support for a shared mechanism responsible for the synthetase-induced peripheral neuropathies. PMID: 24807208
We developed an ELISA to detect anti-glycyl-tRNA synthetase by using recombinant protein PMID: 24508626
Report crystal structures of wild type and mutant GlyRS in complex with tRNA and with small substrates and describe the molecular details of enzymatic recognition of the key tRNA identity elements in the acceptor stem and the anticodon loop. PMID: 24898252
we believe that these two novel GARS mutations are the underlying causes of the distal hereditary motor neuropathy type V phenotype PMID: 23279345
GRS bound to different ERK-activated tumor cells, and released phosphatase 2A (PP2A) from CDH6. PMID: 22345558
missense mutations of Gars may cause some loss of function, the dominant neuropathy phenotype observed in mice is caused by a dose-dependent gain of function that is not mitigated by over-expression of functional wild-type protein. PMID: 22144914
No pathogenic mutations were found, excluding the role of GARS gene as a possible factor in the aetiology of Hirayama disease in this cohort PMID: 19412816
GARS mutation is a rare cause of Charcot-Marie-Tooth neuropathy among Japanese patients. PMID: 19329989
Four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V PMID: 12690580
A novel heterozygous missense GARS gene mutation (D500N) was identified in members of a family affected byCharcot-Marie-Tooth type 2D. PMID: 16534118
We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. PMID: 17101916
The crystal belonged to space group P4(3)2(1)2 or its enantiomorphic space group P4(1)2(1)2, & diffracted X-rays to 3.0 A resolution. The asymmetric unit contained 1 GlyRS molecule & had a solvent content of 69%. PMID: 17142907
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase. PMID: 17544401
The structure of wild type and Charcot-Marie-Tooth-causing mutant of homodimeric GlyRS are reported. PMID: 17545306
Charcot-Marie-Tooth (CMT) disease-causing mutations of glycine-tRNA synthetase share a common defect in localization which may be connected to a change in surfaces at the dimer interface, and may cause a dominant axonal form of CMT (type 2D). PMID: 17595294
we present a comparison between the crystal structures of the eubacterial Escherichia coli and the human tRNA(Gly) acceptor stem microhelices and their surrounding hydration patterns. PMID: 18275849
human glycyl-tRNA synthetase has a role in Ap4A homeostasis PMID: 19710017
Widely expressed, including in brain and spinal cord.; [Isoform 2]: Expressed in brain, spinal cord, muscle, heart and spleen.; [Isoform 1]: Expressed in brain, spinal cord, muscle, heart, spleen and liver.