MARS1 methionyl-tRNA synthetase 1

Gene ID: 4141, updated on 3-Nov-2024
Gene type: protein coding
Also known as: MRS; ILLD; MARS; TTD9; CMT2U; ILFS2; METRS; MTRNS; SPG70

Summary

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Charcot-Marie-Tooth disease axonal type 2U MedGen: C4084821OMIM: 616280GeneReviews: Not available	See labs
Charcot-Marie-Tooth disease type 2 MedGen: C0270914GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	See labs
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MedGen: C4225400OMIM: 615486GeneReviews: Not available	See labs
Spastic paraplegia 70, autosomal recessive MedGen: CN327016OMIM: 620323GeneReviews: Not available	not available
Trichothiodystrophy 9, nonphotosensitive MedGen: C5562058OMIM: 619692GeneReviews: Not available	See labs

Genomic context

Location:: 12q13.3

Sequence:: Chromosome: 12; NC_000012.12 (57488068..57516652)

Total number of exons:: 21

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 MARS1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
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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