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SETX - senataxin
- Synonym(s) : AOA2, KIAA0625, Sen1
- Previous symbols and names : ALS4, SCAR1, amyotrophic lateral sclerosis 4, spinocerebellar ataxia, recessive, non-Friedreich type 1
- Type : gene with protein product
- Chromosomal location : 9q34.13
- OMIM: 608465
- HGNC: 445
- UniProtKB: Q7Z333
- Genatlas: SETX
- GenCC: SETX
- Ensembl: ENSG00000107290
- IUPHAR-DB: -
- Reactome: Q7Z333
- LOVD: SETX
Diseases list
- Disease-causing germline mutation(s) in Amyotrophic lateral sclerosis type 4
ORPHA:357043 
- Disease-causing germline mutation(s) (loss of function) in Spinocerebellar ataxia with axonal neuropathy type 2
ORPHA:64753
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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