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KARS1 - lysyl-tRNA synthetase 1
- Synonym(s) : KARS1, KARS2, lysine tRNA ligase
- Previous symbols and names : 'deafness, autosomal recessive 89', DFNB89, Deafness, autosomal recessive 89, KARS, lysyl-tRNA synthetase
- Type : gene with protein product
- Chromosomal location : 16q23.1
- OMIM: 601421
- HGNC: 6215
- UniProtKB: Q15046
- Genatlas: KARS
- GenCC: KARS
- Ensembl: ENSG00000065427
- IUPHAR-DB: -
- Reactome: Q15046
- LOVD: KARS1
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
ORPHA:254334 
- Disease-causing germline mutation(s) in Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
ORPHA:3240 - Disease-causing germline mutation(s) in Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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