人6-丙酮酰四氢蝶呤合酶：重组酶的cDNA克隆及异源表达
Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.
作者信息
Thöny B, Leimbacher W, Bürgisser D, Heizmann C W
机构信息
Department of Pediatrics, University of Zürich, Switzerland.
出版信息
Biochem Biophys Res Commun. 1992 Dec 30;189(3):1437-43. doi: 10.1016/0006-291x(92)90235-d.
6-Pyruvoyl-tetrahydropterin synthase (PTPS) is involved in the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for enzymes such as the hepatic phenylalanine hydroxylase. BH4 deficiency causes malignant hyperphenylalaninemia. We cloned the human liver cDNA encoding PTPS. The coding region for PTPS contains 145 amino acids and predicts a polypeptide of 16'387 Da. The human amino acid sequence showed a 82% identity with the rat liver sequence. Expression of the cDNA in E. coli yielded the active enzyme and showed immunoreactivity with antibodies against the rat liver PTPS. This is the basis for the molecular understanding of BH4 deficiency in patients suffering from a defect in PTPS activity.
6-丙酮酰四氢蝶呤合酶（PTPS）参与四氢生物蝶呤（BH4）的生物合成，BH4是肝脏苯丙氨酸羟化酶等酶的必需辅因子。BH4缺乏会导致恶性高苯丙氨酸血症。我们克隆了编码PTPS的人肝脏cDNA。PTPS的编码区包含145个氨基酸，预测的多肽分子量为16387道尔顿。人氨基酸序列与大鼠肝脏序列的同一性为82%。该cDNA在大肠杆菌中的表达产生了活性酶，并与抗大鼠肝脏PTPS的抗体表现出免疫反应性。这是从分子层面理解PTPS活性缺陷患者BH4缺乏症的基础。
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