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AARS2 - alanyl-tRNA synthetase 2, mitochondrial
- Synonym(s) : alanine tRNA ligase 2, mitochondrial, bA444E17.1, KIAA1270
- Previous symbols and names : AARSL, alanyl-tRNA synthetase 2, mitochondrial (putative), alanyl-tRNA synthetase like
- Type : gene with protein product
- Chromosomal location : 6p21.1
- OMIM: 612035
- HGNC: 21022
- UniProtKB: Q5JTZ9
- Genatlas: AARS2
- GenCC: AARS2
- Ensembl: ENSG00000124608
- IUPHAR-DB: -
- Reactome: Q5JTZ9
- LOVD: AARS2
Diseases list
- Disease-causing germline mutation(s) in Combined oxidative phosphorylation defect type 8
ORPHA:319504 
- Disease-causing germline mutation(s) (loss of function) in Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808 - Disease-causing germline mutation(s) (loss of function) in Ovarioleukodystrophy
ORPHA:99853
: AssessedAdditional information
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