GARS1 glycyl-tRNA synthetase 1

Gene ID: 2617, updated on 3-Nov-2024
Gene type: protein coding
Also known as: GARS; HMN5; CMT2D; DSMAV; GlyRS; HMN5A; HMND5; SMAD1; SMAJI

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. [provided by RefSeq, Oct 2015]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Charcot-Marie-Tooth disease type 2D MedGen: C1832274OMIM: 601472GeneReviews: GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Hereditary Neuropathy Overview	See labs
Neuronopathy, distal hereditary motor, type 5A MedGen: CN031873OMIM: 600794GeneReviews: GARS-Associated Axonal Neuropathy, BSCL2-Related Neurologic Disorders / Seipinopathy, Charcot-Marie-Tooth Hereditary Neuropathy Overview	See labs
Spinal muscular atrophy, infantile, James type MedGen: C5436669OMIM: 619042GeneReviews: GARS-Associated Axonal Neuropathy	See labs

Genomic context

Location:: 7p14.3

Sequence:: Chromosome: 7; NC_000007.14 (30594735..30634033)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GARS1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ALSoD/GARS genetic mutations
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GARS homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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