MARS2 Chromosome 2
Methionyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
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]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000247626
Associated Conditions (3)
Combined oxidative phosphorylation defect type 25
Spastic ataxia 3
MARS2-related disorder
Key Variants
RS1340079929
Conflicting classifications of pathogenicity
Health Risk
RS140705634
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 25, Spastic ataxia 3, Combined oxidative phosphorylation defect type 25
Health Risk
RS145171191
Conflicting classifications of pathogenicity
Health Risk
RS150082953
Conflicting classifications of pathogenicity
Health Risk
RS2089468193
Conflicting classifications of pathogenicity
Health Risk
RS374254535
Conflicting classifications of pathogenicity
Health Risk
RS754121141
Conflicting classifications of pathogenicity
Health Risk
RS765106202
Conflicting classifications of pathogenicity
MARS2-related disorder, MARS2-related disorder
Health Risk
RS757649757
Likely pathogenic
Health Risk
RS1553608221
Pathogenic
Spastic ataxia 3, Spastic ataxia 3
Health Risk
RS757731660
Pathogenic
Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25
Health Risk
RS794726869
Pathogenic
Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1340079929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140705634 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 25, Spastic ataxia 3, Combined oxidative phosphorylation defect type 25 |
| RS145171191 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150082953 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2089468193 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374254535 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754121141 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765106202 | Health Risk | Conflicting classifications of pathogenicity | MARS2-related disorder, MARS2-related disorder |
| RS757649757 | Health Risk | Likely pathogenic | — |
| RS1553608221 | Health Risk | Pathogenic | Spastic ataxia 3, Spastic ataxia 3 |
| RS757731660 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25 |
| RS794726869 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25 |