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SLC19A3 - solute carrier family 19 member 3
- Synonym(s) : thiamine transporter 2, THTR2
- Previous symbols and names : 'solute carrier family 19, member 3', Solute carrier family 19, member 3, solute carrier family 19 (thiamine transporter), member 3
- Type : gene with protein product
- Chromosomal location : 2q36.3
- OMIM: 606152
- HGNC: 16266
- UniProtKB: Q9BZV2
- Genatlas: SLC19A3
- GenCC: SLC19A3
- Ensembl: ENSG00000135917
- IUPHAR-DB: 1016
- Reactome: Q9BZV2
- LOVD: SLC19A3
Diseases list
- Disease-causing germline mutation(s) in Biotin-thiamine-responsive basal ganglia disease
ORPHA:65284 
- Disease-causing germline mutation(s) in Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA:263410 - Disease-causing germline mutation(s) in Thiamine-responsive encephalopathy
ORPHA:199348
: AssessedAdditional information
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