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
# SNPs33
 Max MagnitudeChromosome positionSummary
Rs1042640233,772,898
Rs111033539233,767,160
Rs111033540233,768,333
Rs111033541233,760,331
Rs114982090233,772,309
Rs11563251233,770,738
Rs199539868233,772,448
Rs2003569233,759,291
Rs281865418233,761,127
Rs281875379233,760,798
Rs28934877233,768,333
Rs3064744233,760,234
Rs34547608233,760,182
Rs34815109233,760,234
Rs34983651233,760,233
Rs34993780233,772,413
Rs35350960233,760,973
Rs35600288233,760,234
Rs4148323233,760,498
Rs4148324233,764,076
Rs4148325233,764,663
Rs5839491234,668,885
Rs62625011233,767,092
Rs6717546233,773,473
Rs6742078233,763,993
Rs72551341233,760,811
Rs72551348233,767,161
Rs72551349233,767,873
Rs72551351233,767,922
Rs72551353233,768,259
Rs8175347233,760,235
Rs8330233,772,999
Rs887829233,759,924

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: