" /> UGT1A1*6 Allele - CISMeF





Preferred Label : UGT1A1*6 Allele;

NCIt synonyms : UDP Glycosyltransferase 1 Family, Polypeptide A1 c.211G A; NM_000463.3:c.211G A; UGT1A1 NM_000463.3:c.211G A; UDP Glucuronosyltransferase Family 1 Member A1 c.211G A; UDP Glycosyltransferase 1 Family, Polypeptide A1*6 Allele; UGT1A1 c.211G A; UDP Glucuronosyltransferase Family 1 Member A1*6 Allele; UGT1A1*6;

NCIt definition : Human UGT1A1*6 allele is located in the vicinity of 2q37 and is approximately 13 kb in length. This allele, which encodes UDP-glucuronosyltransferase 1-1*6 protein, plays a role in the transformation of small lipophilic molecules into water-soluble metabolites. Homozygous expression of the UGT1A1*6 allele is associated with decreased enzymatic activity and Gilbert syndrome, neonatal hyperbilirubinemia and intermittent unconjugated hyperbilirubinemia.;

NCIt note : UGT1A1*6 encodes a change in the amino acid residue at position 71 in the UDP-glucuronosyltransferase 1-1 protein where glycine has been replaced by aspartic acid. (NP_000454.1:p.Gly71Arg);

NCI Metathesaurus CUI : CL1405844;

SNP ID : rs4148323;

Details


Keyword's position in hierarchy(ies) : arborescence

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20/05/2024


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