|
Position Information |
| UCSC Physical
Position
of NM_000015
( From UCSC ) |
chromosome |
Cytoband |
strand |
begin |
end |
| chr8 |
8p22 |
+ |
18058058 |
18067986 |
|
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 |
|
|
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...] |