NAT2 Chromosome 8

N-acetyltransferase 2
5 variants 5 Drug Response

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What This Gene Does
This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
Arylamine N-acetyltransferases
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000156006
Associated Conditions (2)
Slow acetylator due to N-acetyltransferase enzyme variant
NAT2-related disorder
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS1799930 Drug Response Benign; drug response Slow acetylator due to N-acetyltransferase enzyme variant, NAT2-related disorder, Slow acetylator due to N-acetyltransferase enzyme variant
RS1801280 Drug Response Benign; drug response Slow acetylator due to N-acetyltransferase enzyme variant, NAT2-related disorder, Slow acetylator due to N-acetyltransferase enzyme variant
RS1208 Drug Response drug response Slow acetylator due to N-acetyltransferase enzyme variant, Slow acetylator due to N-acetyltransferase enzyme variant
RS1799931 Drug Response drug response Slow acetylator due to N-acetyltransferase enzyme variant, Slow acetylator due to N-acetyltransferase enzyme variant
RS1801279 Drug Response Likely benign; drug response Slow acetylator due to N-acetyltransferase enzyme variant, NAT2-related disorder, Slow acetylator due to N-acetyltransferase enzyme variant
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