NAT1 gene

Last updated on: 28.12.2024

Dieser Artikel auf Deutsch

Definition
This section has been translated automatically.

The NAT1 gene (NAT1. Stands for N-acetyltransferase 1) is a protein-coding gene located on chromosome 8p22. Several transcript variants encoding different isoforms have been found for this gene. GO (Gene Ontology) annotations associated with this gene include acetyltransferase activity and arylamine N-acetyltransferase activity. An important paralog of this gene is NAT2.

General information
This section has been translated automatically.

The NAT1 gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene, N-acetyltransferase 1, catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. N-acetyltransferase 1 plays an essential role in the metabolization of various drugs, including environmental toxins such as nicotine and other xenobiotics.

Clinical picture
This section has been translated automatically.

Diseases associated with NAT1 include spina bifida and deafness, autosomal recessive 15, a form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness is caused by damage to the nerve receptors of the inner ear, the nerve pathways to the brain or the area of the brain that receives sound information.

The encoded enzyme is involved in the detoxification of a variety of hydrazine and arylamine drugs. It catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and can bioactivate several known carcinogens (see also Brooks CC et al. 2021).

Literature
This section has been translated automatically.

  1. Brooks CC et al. (2021) NAT1 genetic variation increases asthma risk in children with secondhand smoke exposure. J Asthma 58:284-292.
  2. Ma XF et al. (2017) Efficacy research of salazosulfamide in ankylosing spondylitis and NAT1 gene polymorphism. Exp Ther Med 14:2999-3003

Incoming links (2)

N-acetyltransferases; NAT2 gene;

Last updated on: 28.12.2024