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Abbiotec/GTP-CH-1 Antibody/250680/0.1 mg
来自 : 发布时间:2025-01-22
GTP cyclohydrolase 1 (GTP-CH-1 or GCH-1) catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) biosynthesis. The final product (BH4) is an essential co-factor for three aromatic amino acid monooxygenases (F, Y, and W). Isoform GCH-1 is the functional enzyme. GTP-CH-1 positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVEC). GTP-CH-1 deficiency is a cause of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. GTP-CH-1 (DYT5) is a cause for dystonia 5, a DOPA-responsive dystonia, defined by sustained involuntary muscle contractions.

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发布于 : 2025-01-22 阅读()