Gene: GARS1

Alternate names for this Gene: CMT2D|DSMAV|GARS|GlyRS|HMN5|SMAD1|SMAJI

Gene Summary: 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. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: glycyl-tRNA synthetase 1

Type of Gene: protein-coding

rs79870814 in GARS1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs137852643 in GARS1 gene and Charcot-Marie-Tooth disease, Type 2D PMID 26244500 2015 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

PMID 20169446 2010 Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.

PMID 25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PMID 17101916 2006 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

PMID 17663003 2007 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PMID 12690580 2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

PMID 21737751 2011 Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.

PMID 17595294 2007 Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 17544401 2007 Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.

PMID 24669931 2014 Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

rs1060502838 in GARS1 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16014653 2005 Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

PMID 25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

PMID 26244500 2015 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PMID 17595294 2007 Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

PMID 27008886 2016 Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

PMID 26138142 2015 Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.

PMID 21737751 2011 Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.

PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 17101916 2006 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

rs137852644 in GARS1 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V PMID 23279345 2012 Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

PMID 12690580 2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PMID 24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.