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SLC6A1 - solute carrier family 6 member 1
- Synonym(s) : GABATHG, GABATR, GABA transporter 1, GAT1
- Previous symbols and names : solute carrier family 6 (neurotransmitter transporter), member 1, solute carrier family 6 (neurotransmitter transporter, GABA), member 1
- Type : gene with protein product
- Chromosomal location : 3p25.3
- OMIM: 137165
- HGNC: 11042
- UniProtKB: P30531
- Genatlas: SLC6A1
- GenCC: SLC6A1
- Ensembl: ENSG00000157103
- IUPHAR-DB: 929
- Reactome: P30531
- LOVD: SLC6A1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 
- Disease-causing germline mutation(s) (loss of function) in Myoclonic-astatic epilepsy
ORPHA:1942
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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