Biopterin defect in cofactor biosynthesis（四氢生物蝶呤缺乏） |
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由于四氢生物喋呤是苯基丙氨酸代谢过程中的辅助物质。GCH1,PCBD3,PTS,QDPR这几个基因指导合成和回收四氢生物喋呤的关键酶，这几个基因突变导致四氢生物喋呤缺乏，苯基丙氨酸在体内堆积从而对机体形成损害。
PTS基因编码四氢生物喋呤合成反应中第二步的关键酶PTS。已发现45种突变会导致四氢蝶呤缺乏症，占比50%以上。PTS缺乏使得苯丙氨酸无法代谢，有害物质堆积损害机体，尤其是脑损伤，从而引起智力残疾。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| PTS | 6-pyruvoyltetrahydropterin synthase | 11q22.3 | 6 | 约934 bp |
| 基因摘要 | The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]. | |||