AARS2 Chromosome 6
Alanyl-tRNA synthetase 2, mitochondrial
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What This Gene Does
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000124608
Associated Conditions (12)
Combined oxidative phosphorylation defect type 8
AARS2-related disorder
Inborn genetic diseases
Cardiovascular phenotype
Mitochondrial disease
Leukoencephalopathy
progressive
with ovarian failure
Pulmonary hypoplasia
Generalized muscle weakness
Adrenocortical carcinoma
hereditary
Key Variants
RS139372744
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, AARS2-related disorder, Combined oxidative phosphorylation defect type 8
Health Risk
RS139974034
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, Combined oxidative phosphorylation defect type 8
Health Risk
RS141076788
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
Health Risk
RS141516924
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141941157
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142094090
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, Combined oxidative phosphorylation defect type 8
Health Risk
RS145086947
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, Combined oxidative phosphorylation defect type 8
Health Risk
RS146512155
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
Health Risk
RS146765163
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146924860
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
Health Risk
RS148363748
Conflicting classifications of pathogenicity
AARS2-related disorder, AARS2-related disorder
Health Risk
RS150039184
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554148927 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy, progressive, with ovarian failure |
| RS1561943859 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy, progressive, with ovarian failure |
| RS200105202 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 8, Generalized muscle weakness, Leukoencephalopathy |
| RS368934219 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Combined oxidative phosphorylation defect type 8, Inborn genetic diseases |
| RS768351915 | Health Risk | Pathogenic/Likely pathogenic | AARS2-related disorder, Adrenocortical carcinoma, hereditary |