期刊
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
卷 39, 期 11, 页码 1999-2005出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.biocel.2006.12.006
关键词
arylamine N-acetyltransferase; catalytic triad; folate metabolism; polymorphism; ubiquitination
Arylamine N-acetyltransferase I (NAT1) is a phase II enzyme that acetylates a wide range of arylamine and hydrazine substrates. The NAT1 gene is located on chromosome 8 and shares homology to NAT genes found in most mammalian species. Gene expression occurs from at least two promoters and a number of tissue-specific transcripts have been identified. The gene is polymorphic with most mutations identified to date producing an unstable protein that is subject to polyubiquitination. The NAT1 protein contains a catalytic triad similar to a number of cysteine proteases and transglutaminases. NAT1 is widely distributed in the body, but the only endogenous substrate identified to date is the folate catabolite p-aminobenzoylglutamate. Recent links between NAT1 genotypes and susceptibility to spina bifida suggests that the enzyme has an important role in folate homeostasis. (C) 2007 Elsevier Ltd. All fights reserved.
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