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GARS1 - glycyl-tRNA synthetase 1
- Synonym(s) : DSMAV, glycine tRNA ligase, GlyRS, SMAD1
- Previous symbols and names : CMT2D, Charcot-Marie-Tooth neuropathy 2D, GARS, glycyl-tRNA synthetase
- Type : gene with protein product
- Chromosomal location : 7p14.3
- OMIM: 600287
- HGNC: 4162
- UniProtKB: P41250
- Genatlas: GARS
- GenCC: GARS
- Ensembl: ENSG00000106105
- IUPHAR-DB: -
- Reactome: P41250
- LOVD: GARS1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Charcot-Marie-Tooth disease type 2D
ORPHA:99938 
- Disease-causing germline mutation(s) in Distal hereditary motor neuropathy type 5
ORPHA:139536
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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