人类的芳基胺N-acetyltransferase基因:隔离、染色体定位和功能表达。
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布卢姆M,格兰特DM,麦克布莱德W,海姆M,梅尔UA
人类的芳基胺N-acetyltransferase基因:隔离、染色体定位和功能表达。
4月DNA细胞杂志。1990;9 (3):193 - 203。
- PubMed ID
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2340091 (在PubMed]
- 文摘
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N-Acetylation肝的芳基胺N-acetyltransferase (NAT, EC 2.3.1.5)是一个主要的路线很多药物的代谢和解毒和外国的化学物质。NAT是常见的遗传多态性的目标人群的临床意义。我们最近使用孤立的兔子cDNA rnat克隆三个人类NAT基因从人类白细胞DNA。所有的三个基因编码序列被内含子。两个基因,指定NAT1和NAT2,每个拥有870个基点的开放阅读框架。这两个基因已经被分配给人类染色体8日pter-q11。转染后他们是暂时性的猴肾COS-1细胞中表达。NAT1和NAT2的NAT功能蛋白,根据他们的NAT与芳基胺酶活性衬底磺胺甲嘧啶。西方的屁股NAT-specific抗血清检测蛋白质的表观分子量的33岁和31 kD NAT1 NAT2-transfected文化,分别。NAT2的产品有一个相同的表观分子量的NAT发现在人类肝细胞溶质。 The deduced amino acid sequence of NAT2 also contained 6 peptide sequences which had previously been determined from tryptic peptides of the polymorphic NAT purified from human liver. These data suggest that NAT2 encodes the polymorphic NAT protein. The third gene, NATP, had multiple deleterious mutations and did not encode a functional NAT protein; it most likely represents a pseudogene.