GTP cyclohydrolase I (GTPCH) (EC 3.5.4.16) is a member of the GTP cyclohydrolase family of enzymes. GTPCH is part of the folate and biopterin biosynthesis pathways. It is responsible for the hydrolysis of guanosine triphosphate (GTP) to form 7,8-dihydroneopterin triphosphate (7,8-DHNP-3'-TP, 7,8-NH 2 -3'-TP). GTPCH is encoded by the gene GCH1.

gch1 /bh4/dhfr系统. 近期一项研究通过crispr全基因组筛选并确定了一种不依赖于gpx4的铁死亡抑制基因，即鸟苷三磷酸环水解酶gch1（四氢生物蝶呤bh4合成的限速酶）。如果阻断二氢叶酸还原酶dhfr，可协同gpx4抑制剂发挥诱导铁死亡的作用。

2024年12月25日 · GCH1 (GTP Cyclohydrolase 1) is a Protein Coding gene. Diseases associated with GCH1 include Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive. Among its related pathways are tetrahydrobiopterin de …

gch1或dhodh高表达的细胞表现出更强的铁死亡抵抗力，而低表达的细胞则对铁死亡更敏感。 最后，最近的一份研究表明，还有其他的铁死亡抑制机制，独立于 GSH/GPX4、FSP1/DHODH/CoQ10 和 GCH1/BH4。

More than 140 mutations in the GCH1 gene have been found to cause dopa-responsive dystonia. This condition is characterized by a pattern of involuntary muscle contractions (dystonia), tremors, and other uncontrolled movements and usually responds to treatment with a …

该基因的突变与恶性高苯丙氨酸血症和多巴反应性肌张力障碍有关。 已经描述了几种编码不同亚型的可变剪接转录物变体；然而，并非所有变体都会产生功能性酶。 [RefSeq 提供，2008 年 7 月] This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting Enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate.

2022年1月26日 · The Parkinson's disease (PD) risk gene GTP cyclohydrolase 1 (GCH1) catalyzes the rate-limiting step in tetrahydrobiopterin (BH4) synthesis, an essential cofactor in the synthesis of monoaminergic neurotransmitters. To investigate the mechanisms by which GCH1 deficiency may contribute to PD, we gener …

2023年12月20日 · GCH1 encodes the GTP cyclohydrolase 1 enzyme, which catalyzes the first step of tetrahydrobiopterin synthesis. Mutation in GCH1 causes various neurodegenerative diseases. Few SNPs of GCH1 gene are associated with pain in sickle cell disease. Increased BH4 levels have been shown to restore NO-dependent functions in human diseased states.

GCH1 mutations induce the distinctive symptoms among young or middle age at onset. It is a genetic risk for Parkinson's disease. One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH) have been found and predicted to be damaging or ...

2021年1月9日 · Microarray analysis indicates HIV-1 Tat-induced upregulation of GTP cyclohydrolase 1 (GCH1) in primary human brain microvascular endothelial cells: PubMed