The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. This enzyme is involved in the first of three steps in the production of a molecule called …

GTPCH is encoded by the gene GCH1. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all of the variants give rise to a functional …

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. …

2022年1月26日 · Rather than causing DAergic cell death (as previously hypothesized by others), we now demonstrate that GCH1 impairs tyrosine hydroxylase (Th) homeostasis and activates …

2023年12月20日 · GCH1 gene provides directions for the synthesis of GTP cyclohydrolase 1 which regulates the formation of Tetrahydrobiopterin (BH4). BH4 is a crucial cofactor for …

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 …

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

2024年3月5日 · Clinical resource with information about GCH1, Dystonia 5, GTP cyclohydrolase I deficiency with hyperphenylalaninemia, Large-scale meta-analysis of genome-wide …

In this study, we explored the role of five single nucleotide polymorphisms (SNPs) of candidate gene GCH1 in SCD pain. Composite pain index (CPI) scores and acute care utilization rates …

GTP cyclohydrolase I (EC 3.5.4.16) catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) …