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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
Ensembl: ENSG00000241635
IUPHAR-DB: -
Reactome: P22309
LOVD: UGT1A1

Diseases list

Disease-causing germline mutation(s) (loss of function) in Crigler-Najjar syndrome type 1
Disease-causing germline mutation(s) (loss of function) in Crigler-Najjar syndrome type 2
Biomarker tested in Irinotecan toxicity
Biomarker tested in Raltegravir toxicity
Candidate gene tested in Transient familial neonatal hyperbilirubinemia

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (188)

Research activities on this gene

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