Search for a gene
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

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.