Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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N-Acetyltransferase Type 2 (NAT2) [T88.7]

OMIM numbers: 243400, 612182 (NAT2)

Dipl.-Biol. Birgit Busse

Scientific Background

The detoxification of xenobiotics through acetylation is catalyzed by the N-acetyl transferases NAT1 and NAT2. NAT2 is polymorphic within the Caucasian population. In Europe, 40-70% of the population belong to the group of slow acetylators (SA) for NAT2. The SA-phenotype is based on variants in the coding region of the NAT2 gene, with four prevalent variant alleles (NAT2*5a/b, *6a, *7a/b, *14a). Carriers of these alleles are at risk to develop toxicities when exposed to NAT2 substrates. Besides certain drugs, other substrates of NAT2 are aromatic amines such as naphthylamine or benzidine. The metabolism of xenobiotics in the body usually involves several steps with several enzyme systems being involved. In the intermediate stages of the detoxification process, toxic metabolites can occur. In many cases, the route of degradation with all its enzyme systems involved has not entirely been characterized yet. Therefore, the analysis of the NAT2 genotype only provides partial information on the toxification capacity of the patient.