" /> UGT1A1*60 Allele - CISMeF





Preferred Label : UGT1A1*60 Allele;

NCIt synonyms : UDP Glucuronosyltransferase Family 1 Member A1 c.-3279T G; UGT1A1 c.-3279T G; UDP Glucuronosyltransferase Family 1 Member A1*60 Allele; UGT1A1*60; UDP Glycosyltransferase 1 Family, Polypeptide A1*60 Allele; UDP Glycosyltransferase 1 Family, Polypeptide A1 c.-3279T G;

NCIt definition : Human UGT1A1*60 allele is located in the vicinity of 2q37 and is approximately 13 kb in length. This allele, which encodes UDP-glucuronosyltransferase 1-1 protein, plays a role in the catabolism of small lipophilic molecules. Homozygous expression of the UGT1A1*60 allele is associated with Crigler-Najjar syndrome type II and heterozygous expression is associated with Gilbert syndrome.;

NCIt note : UGT1A1*60 polymorphism is located in the non-coding upstream promoter region of the UGT1A1 gene.;

NCI Metathesaurus CUI : CL1405637;

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29/05/2025


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