人白细胞和毛囊是用于检测突变的蝶呤甲醇胺脱水酶/HNF1二聚化辅助因子的mRNA的良好来源。
Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection.
作者信息
Lei X D, Kaufman S
机构信息
National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, 20892, USA.
出版信息
Biochem Biophys Res Commun. 1998 Jul 20;248(2):432-5. doi: 10.1006/bbrc.1998.8898.
Pterin carbinolamine dehydratase/dimerization cofactor of HNF1 (PCD/DCoH) is a protein that has a dual function. It is a pterin 4alpha-carbinolamine dehydratase that is involved in the regeneration of the cofactor tetrahydrobiopterin during the phenylalanine hydroxylase- catalyzed hydroxylation of phenylalanine. In addition, it is the dimerization cofactor of HNF1 that is able to activate the transcriptional activity of HNF1. Deficiencies in the gene for this dual functional protein result in hyperphenylalaninemia. Here we report for the first time that the PCD/DCoH mRNA is present in human white blood cells and hair follicles. Taking advantage of this finding, a sensitive, rapid and convenient method for screening mutations occurring in the coding region of this gene has been described.
蝶呤甲醇胺脱水酶/HNF1二聚化辅因子（PCD/DCoH）是一种具有双重功能的蛋白质。它是一种蝶呤4α-甲醇胺脱水酶，在苯丙氨酸羟化酶催化苯丙氨酸羟基化过程中参与辅因子四氢生物蝶呤的再生。此外，它是HNF1的二聚化辅因子，能够激活HNF1的转录活性。这种双功能蛋白质基因的缺陷会导致高苯丙氨酸血症。在此我们首次报道PCD/DCoH mRNA存在于人类白细胞和毛囊中。利用这一发现，已经描述了一种用于筛选该基因编码区发生突变的灵敏、快速且便捷的方法。
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