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UGT1A1 - UDP glucuronosyltransferase family 1 member A1
- Synonym(s) : UGT1A
- Previous symbols and names : GNT1, UDP glycosyltransferase 1 family, polypeptide A1, UGT1
- Type : gene with protein product
- Chromosomal location : 2q37.1
- OMIM: 191740
- HGNC: 12530
- UniProtKB: P22309
- Genatlas: UGT1A1
- GenCC: UGT1A1
- Ensembl: ENSG00000241635
- IUPHAR-DB: 2990
- Reactome: P22309
- LOVD: UGT1A1
Diseases list
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: Gilbert syndrome
ORPHA:357 
- Disease-causing germline mutation(s) (loss of function) in Crigler-Najjar syndrome type 1
ORPHA:79234 - Disease-causing germline mutation(s) (loss of function) in Crigler-Najjar syndrome type 2
ORPHA:79235 - Biomarker tested in Prediction of irinotecan toxicity
ORPHA:240885 - Biomarker tested in Prediction of raltegravir toxicity
ORPHA:240905 - Candidate gene tested in Transient familial neonatal hyperbilirubinemia
ORPHA:2312
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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