PKU AND OTHER DISEASES CAUSED BY DEFECTS IN BIOPTERIN-DEPENDENT ENZYMES

双功能蛋白4a-甲醇胺脱氢酶/二聚化 HNF-1的辅因子（DCoH）参与细胞的再生， 四氢生物蝶呤，苯丙氨酸羟化酶的辅因子，和 转录因子HNF-1的调节。 轻度形式的 已经证明高苯丙氨酸血症是由以下缺陷引起的： DCoH的酶功能和蛋白水解稳定性的降低。 我们已经使用定点突变来表征酶的 催化核心和定位的网站负责转录 共激活

The bi-functional protein 4a-carbinolamine dehydratase/dimerization cofactor of HNF-1 (DCoH) is involved in the regeneration of tetrahydrobiopterin, the cofactor of phenylalanine hydroxylase, and in the regulation of the transcription factor HNF-1. A mild form of hyperphenylalaninemia has been demonstrated to be caused by a defect in the enzymatic function and a decrease in proteolytic stability of DCoH. We have used site-directed mutagenesis to characterize the enzyme's catalytic core and to localize the site responsible for transcriptional coactivation.