WebJul 16, 1993 · The most common pattern of inheritance is autosomal dominant, and the majority of affected families have a mutation in the guanosine triphosphate cyclohydrolase I (GTP-CHI) gene GCH1, localized to chromosomal region 14q22.1-22.2. The encoded is responsible for the conversion of guanosine triphosphate to tetrahydrobiopterin.
GTP Cyclohydrolase II Structure and Mechanism*
Webfrom GTP cyclohydrolase I; the latter converts GTP to dihydrone-opterintriphosphate,utilizedinfolateandtetrahydrobiopterinbio-synthesis. The structure of … WebGTP Cyclohydrolase 1 Deficiency (GTPCH); GTP Cyclohydrolase 1-Related Disorders. Summary. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical … michael park aig
GCH1 GTP cyclohydrolase 1 [ Homo sapiens (human) ]
WebJun 7, 2005 · 3.40.50.10990 GTP cyclohydrolase II 1 hit; HAMAP. MF_00179 RibA 1 hit; InterPro. View protein in InterPro; IPR032677 GTP_cyclohydro_II; IPR000926 RibA; IPR036144 RibA-like_sf; PANTHER. PTHR21327:SF18 3,4-DIHYDROXY-2-BUTANONE 4-PHOSPHATE SYNTHASE 1 hit; PTHR21327 GTP CYCLOHYDROLASE II-RELATED 1 … 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-NH2-3'-TP). See more 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 enzyme. See more At least 94 disease-causing mutations in this gene have been discovered. Mutations in this gene are associated with two disorders: See more • Guanosine triphosphate (GTP) • Tetrahydrobiopterin (THB, BH4) • Vitamin B9 (folic acid → folate) See more • GTP+Cyclohydrolase+I at the U.S. National Library of Medicine Medical Subject Headings (MeSH) • GeneReviews/NCBI/NIH/UW entry on GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia See more The transcribed protein is the first and rate-limiting enzyme in tetrahydrobiopterin (THB, BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-DHNP-3'-TP. THB is an essential See more • Voet JG, Voet D (2004). Biochemistry. New York: J. Wiley & Sons. ISBN 0-471-39223-5. See more WebNM_000161.3(GCH1):c.206C>T (p.Pro69Leu) AND GTP cyclohydrolase I deficiency Clinical significance: Benign/Likely benign (Last evaluated: May 28, 2024) Review status: michael park actor broadway