UGT1A1

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Full nameUDP glucuronosyltransferase 1 family, polypeptide A1
EntrezGene54658
PheGenI54658
VariationViewer54658
ClinVarUGT1A1
dbSNP54658
SADR54658
HugeNav54658
wikipediaUGT1A1
googleUGT1A1
gopubmedUGT1A1
EVSUGT1A1
HEFalMpUGT1A1
23andMeUGT1A1
UniProtP22309
EnsemblENSG00000241635
OMIM191740
EVSUGT1A1
# SNPs30
 Max MagnitudeChromosome positionSummary
Rs1042640233,772,898
Rs1110335390233,767,160
Rs1110335400233,768,333
Rs1110335410233,760,331
Rs114982090233,772,309
Rs199539868233,772,448
Rs2818654180233,761,127
Rs2818753790233,760,798
Rs289348770233,768,333
Rs3064744233,760,234
Rs345476080233,760,182
Rs34815109233,760,234
Rs34983651233,760,233
Rs349937800233,772,413
Rs353509600233,760,973
Rs356002880233,760,234
Rs41483230233,760,498
Rs4148325233,764,663
Rs5839491234,668,885
Rs626250110233,767,092
Rs6717546233,773,473
Rs67420782.1233,763,993
Rs725513410233,760,811
Rs725513480233,767,161
Rs725513490233,767,873
Rs725513510233,767,922
Rs725513530233,768,259
Rs8175347233,760,235
Rs8330233,772,999
Rs8878292233,759,924

The UGT1A1 gene is located on chromosome 2, and it encodes a protein that modifies hepatic bilirubin in order to allow it to be excreted. SNPs that reduce the activity of the UGT1A1 gene therefore tend to increase serum bilirubin levels.

One particular variation in the promoter region of this gene, known as the UGT1A1*28 variant, has attracted the majority of attention, including an FDA approved genetic test applicable to potential users of the drugs irinotecan and tranilast. There are 4 SNPs in dbSNP that describe the same exact variation. They are: