MARS2 methionyl-tRNA synthetase 2, mitochondrial
Gene ID: 92935, updated on 5-Mar-2024Gene type: protein coding
Also known as: MetRS; COXPD25; mtMetRS
- See all available tests in GTR for this gene
- Go to complete Gene record for MARS2
- Go to Variation Viewer for MARS2 variants
Summary
This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Combined oxidative phosphorylation defect type 25 | See labs |
| Spastic ataxia 3 | See labs |
Genomic context
- Location:
- 2q33.1
- Sequence:
- Chromosome: 2; NC_000002.12 (197705369..197708395)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MARS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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