PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2

McDonagh, Ellen M.; Boukouvala, Sotiria; Aklillu, Eleni; Hein, David W.; Altman, Russ B.; Klein, Teri E.

doi:10.1097/fpc.0000000000000062

Cited by 146Pharmacogenetics and Drug MetabolismGenetic Associations and EpidemiologyNutrition, Genetics, and Disease

PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2

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McDonagh, Ellen M., Boukouvala, Sotiria, Aklillu, Eleni, Hein, David W., Altman, Russ B., Klein, Teri E.·2014·Pharmacogenetics and Genomics

DOI 10.1097/fpc.0000000000000062PMC PMC4109976

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McDonagh, Ellen M.; Boukouvala, Sotiria; Aklillu, Eleni; Hein, David W.; Altman, Russ B.; Klein, Teri E. Author Information

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NAT1 is ubiquitously expressed at a low level across tissues and is generally considered extra-hepatic, while NAT2 is considered hepatic.
“However, we may not be able to quantitate this protein in hepatocytes as NAT1 is ubiquitously expressed at a low level across tissues, and is generally considered to be an extra-hepatic enzyme, while NAT2 is considered to be a hepatic enzyme.23,52”
From N-Acetyltransferase (NAT) 1 and NAT2 Enzyme Activities Drive Interindividual Variability in Sulfamethoxazole N-Acetylation (2025) · cites this paper as [52]
The Background’s “Function and expression” section says NAT1 is ubiquitously expressed, with levels varying by cell type and tissue, and that NAT2 expression is predominant in the liver, small intestine, and colon. It does not say NAT1 is expressed at a low level across tissues or classify it as extra-hepatic; describing NAT2 simply as hepatic also omits its substantial intestinal expression. No page number is available in our copy. (LLM, conf=0.86)
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Flagged first, then by citations

Research works printed but not linked: 2

[20]National Center for Biotechnology Information (NCBI) U.S. National Library of Medicine NCBI Gene ID: 9 (NAT1) http://www.ncbi.nlm.nih.gov/gene/9 Accessed 13th Aug 2013.
[21]National Center for Biotechnology Information (NCBI) U.S. National Library of Medicine NCBI Gene ID: 10 (NAT2) http://www.ncbi.nlm.nih.gov/gene/10 Accessed 13th Aug 2013.

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Authors: McDonagh, E. M., Boukouvala, S., Aklillu, E., Hein, D. W., Altman, R. B., & Klein, T. E.
Affiliations: University of Louisville (US)
Democritus University of Thrace (GR)
Karolinska Institutet (SE)
Stanford University (US)
Corresponding author: Klein, Teri E.
ORCID: McDonagh, Ellen M.
Boukouvala, Sotiria
Aklillu, Eleni
Hein, David W.
Altman, Russ B.
Klein, Teri E.
Venue: Pharmacogenetics and Genomics
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2014-08
Volume: 24
Issue: 8
Pages: 409-425
ISSN: 1744-6872 (ISSN-L)
DOI: 10.1097/fpc.0000000000000062
PMC: PMC4109976
OpenAlex: W1972316851
Cited by: 146
References: 203
Citations by year: 2026: 8 · 2025: 17 · 2024: 14 · 2023: 13 · 2022: 17 · 2021: 12 · 2020: 10 · 2019: 14 · 2018: 10 · 2017: 13 · 2016: 8 · 2015: 7 · 2014: 2 · 2012: 1
FWCI: 1.78
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Pharmacogenetics and Genomics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: American Association of Colleges of Pharmacy
National Institute of General Medical Sciences (R24GM061374, R24-GM61374)
Topics: Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
MeSH terms: Alleles, Arylamine N-Acetyltransferase, Caffeine, Genotype, Humans, Hydralazine, Isoenzymes, Isoniazid, Pharmacogenetics, Phenotype, Polymorphism, Genetic, Sulfasalazine, Sulfamethoxazole, Xenobiotics, Gene Expression Profiling, Genomics

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