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FARS2 - phenylalanyl-tRNA synthetase 2, mitochondrial
- Synonym(s) : dJ236A3.1, mtPheRS, Phenylalanine tRNA ligase 2, mitochondrial, 'phenylalanine tRNA ligase 2, mitochondrial'
- Previous symbols and names : FARS1, Phenylalanine-tRNA synthetase 1 (mitochondrial), phenylalanine-tRNA synthetase 1 (mitochondrial)
- Type : gene with protein product
- Chromosomal location : 6p25.1
- OMIM: 611592
- HGNC: 21062
- UniProtKB: O95363
- Genatlas: FARS2
- GenCC: FARS2
- Ensembl: ENSG00000145982
- IUPHAR-DB: -
- Reactome: O95363
- LOVD: FARS2
Diseases list
- Disease-causing germline mutation(s) in Combined oxidative phosphorylation defect type 14
ORPHA:319519 - Disease-causing germline mutation(s) (loss of function) in Autosomal recessive spastic paraplegia type 77
ORPHA:466722

Additional information
Patient-centred resources for this gene
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