Result of NAT2

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External Database Link

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  Arylamine N-Acetyltransferase Nomenclature

PharmGKB: PA18
Gene Information
Official Gene Symbol NAT2
Official Gene Name N-acetyltransferase 2 (arylamine N-acetyltransferase)
Aliases Arylamine N-acetyltransferase-2

arylamide acetylase 2 (N-acetyltransferase 2, isoniazid inactivation)
LocusLink Summary

 The intronless NAT2 gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2). This enzyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation polymorphism in which human populations segregate into rapid,intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity.A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2.
GeneRIF:

Gene References into Function:
PubMed ID description
11846845  Association between bone loss in periodontal disease and polymorphism of N-acetyltransferase (NAT2)
11872636  we investigated the relationship between the levels of aromatic DNA adducts in breast tissues and polymorphisms of the drug-metabolizing genes CYP1A1, NAT2, and GSTM1 in 166 women having breast cancer
11915035  Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis.
12015038  The combined effect of N-acetyltransferase 2 (NAT2) slow genotype and exposure to smoking is observed during the development of laryngeal cancer.
12222688  N-acetyltransferase 2*19 possessing the C190T (R64W) single nucleotide polymorphisms encodes a slow acetylator phenotype for both N- and O-acetylation, due to a reduction in the amount and stability of the NAT2 19 allozyme
12355549  NAT2 slow genotype with NAT1 polymorphism indicates increased susceptibility to prostate cancer
12397635  Maternal NAT2 acetylator status seems not to be an important factor in the etiology of orofacial clefts.
12430181  Women with the GSTT1 null genotype were found to have a significant 3.15-fold increased risk of breast cancer (95% CI = 1.7-5.8), while GSTM1 and NAT2 genotypes were not associated with breast cancer risk.
12469231  This enzyme is polymorphic in various ethnic populations of South India.
12474054  A slow acetylator genotype of this enzyme is associated with an increased risk of advanced cervical cancer.
12611196  Polymorphic N-acetyltransferase (NAT2) is involved in the metabolism of several compounds relevant in pharmacology or toxicology, with diverse clinical consequences--review
12682333  Single nucleotide polymorphisms of NAT1 and NAT2, and acetylation haplotype were not associated with increased risk for Parkinson disease
RefSeq NM_000015 ( Reviewed )
Gene Ontology
Ontology Annotation Evidence Source
Molecular

Function

 Acetyltransferase activity IEA GOA
Transferase activity IEA GOA
Arylamine N-acetyltransferase activity TAS GOA
Biological Process Metabolism IEA GOA
SwissProt Information
SwissProt ID/Primary Accession Number ARY2_HUMAN / P11245
Description  Arylamine N-acetyltransferase 2 (EC 2.3.1.5) (Arylamide acetylase 2)
Comments
FUNCTION PARTICIPATES IN THE DETOXIFICATION OF A PLETHORA OF HYDRAZINE AND ARYLAMINE DRUGS. CATALYZES THE N- OR O-ACETYLATION OF VARIOUS ARYLAMINE AND HETEROCYCLIC AMINE SUBSTRATES AND IS ABLE TO BIOACTIVATE SEVERAL KNOWN CARCINOGENS.
CATALYTIC ACTIVITY Acetyl-CoA + an arylamine = CoA + an N- acetylarylamine.
 SUBCELLULAR LOCATION  Cytoplasmic.
DISEASE  N-ACETYLATION POLYMORPHISM IS DETERMINED BY A LOW OR HIGH NAT ACTIVITY IN LIVER, IT HAS BEEN IMPLICATED IN THE ACTION AND TOXICITY OF AMINE-CONTAINING DRUGS, AND IN THE SUSCEPTIBILITY TO BLADDER CANCER AND SYSTEMATIC LUPUS ERYTHEMATOSUS. THIS ISOZYME IS RESPONSIBLE FOR THIS POLYMORPHISM.
SIMILARITY BELONGS TO THE ARYLAMINE N-ACETYLTRANSFERASE FAMILY.
DATABASE  NAT: NAT alleles ,  http://www.louisville.edu/medschool/pharmacology/NAT.html
SNP Information
Source NAT2
Created on 10/27/2003 18:11:44
SNPs 84 (avg dist: 312)  [View all 84 SNPs...]

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