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SLC3A1 - solute carrier family 3 member 1
- Synonym(s) : ATR1, CSNU1, D2H, NBAT, RBAT
- Previous symbols and names : solute carrier family 3 (amino acid transporter heavy chain), member 1, solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
- Type : gene with protein product
- Chromosomal location : 2p21
- OMIM: 104614
- HGNC: 11025
- UniProtKB: Q07837
- Genatlas: SLC3A1
- GenCC: SLC3A1
- Ensembl: ENSG00000138079
- IUPHAR-DB: 889
- Reactome: Q07837
- LOVD: SLC3A1
Diseases list
- Disease-causing germline mutation(s) in Cystinuria type A
ORPHA:93612 
- Role in the phenotype of 2p21 microdeletion syndrome
ORPHA:163693 - Role in the phenotype of Atypical hypotonia-cystinuria syndrome
ORPHA:238523 - Role in the phenotype of Hypotonia-cystinuria syndrome
ORPHA:163690
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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