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GTP Cyclohydrolase 1 (GCH1)

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DYT5; GCH; GTP-CH-1; DYT5a; GTPCH1; Dopa-Responsive Dystonia

GTP Cyclohydrolase 1 (GCH1)
CCC J057
HGNC 4193
MGI 95675
PubMed 22971341
RGD 61992
UniProt P30793
Wiki GCH1
GTPCH is encoded by the gene GCH1. The transcribed protein is the first and rate-limiting enzyme in tetrahydrobiopterin (THB) biosynthesis, catalyzing the conversion of GTP into 7,8-DHNP-3'-TP. THB is an essential cofactor required by the aromatic amino acid hydroxylase (AAAH) and nitric oxide synthase (NOS) enzymes in the biosynthesis of the monoamine neurotransmitters serotonin, melatonin, dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline), and nitric oxide (NO), respectively. Mutations in this gene are associated with malignant phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as L-DOPA (Levodopa)-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all of the variants give rise to a functional enzyme.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ057Hu01 Recombinant GTP Cyclohydrolase 1 (GCH1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTP Cyclohydrolase 1 (GCH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTP Cyclohydrolase 1 (GCH1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant GTP Cyclohydrolase 1 (GCH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTP Cyclohydrolase 1 (GCH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTP Cyclohydrolase 1 (GCH1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant GTP Cyclohydrolase 1 (GCH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to GTP Cyclohydrolase 1 (GCH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for GTP Cyclohydrolase 1 (GCH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for GTP Cyclohydrolase 1 (GCH1) ELISA Kit Customized Service Offer
  1. "Multiple mRNA forms of human GTP cyclohydrolase I."Biochem. Biophys. Res. Commun. 187:359-365(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Human GTP cyclohydrolase I: only one out of three cDNA isoforms gives rise to the active enzyme."Biochem. J. 302:215-221(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Isolation of a full-length cDNA clone for human GTP cyclohydrolase I type 1 from pheochromocytoma."J. Neural Transm. 101:237-242(1995) [PubMed] [Europe PMC] [Abstract]
  4. "GTP cyclohydrolase I mRNA: novel splice variants in the slime mould Physarum polycephalum and in human monocytes (THP-1) indicate conservation of mRNA processing."Biochem. J. 355:499-507(2001) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I."Gene 171:285-290(1996) [PubMed] [Europe PMC] [Abstract]
  7. "Species and tissue specificity of mammalian GTP cyclohydrolase I messenger RNA."Biochim. Biophys. Acta 1171:133-140(1992) [PubMed] [Europe PMC] [Abstract]
  8. "Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency."J. Biol. Chem. 270:10062-10071(1995) [PubMed] [Europe PMC] [Abstract]
  9. "The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver."Biochim. Biophys. Acta 880:26-31(1986) [PubMed] [Europe PMC] [Abstract]
  10. "Human liver GTP cyclohydrolase I: purification and some properties."Biochimie 71:343-349(1989) [PubMed] [Europe PMC] [Abstract]
  11. "Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies."Eur. J. Biochem. 178:627-634(1989) [PubMed] [Europe PMC] [Abstract]
  12. "Pteridine biosynthesis in human endothelial cells. Impact on nitric oxide-mediated formation of cyclic GMP."J. Biol. Chem. 268:1842-1846(1993) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes."Hum. Mutat. 10:11-20(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Cytokines stimulate GTP cyclohydrolase I gene expression in cultured human umbilical vein endothelial cells."Arterioscler. Thromb. Vasc. Biol. 18:27-32(1998) [PubMed] [Europe PMC] [Abstract]
  15. "GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation."Cardiovasc. Res. 55:838-849(2002) [PubMed] [Europe PMC] [Abstract]
  16. "cAMP inhibits cytokine-induced biosynthesis of tetrahydrobiopterin in human umbilical vein endothelial cells."Life Sci. 70:2187-2198(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism."Basic Res. Cardiol. 98:69-75(2003) [PubMed] [Europe PMC] [Abstract]
  18. "cGMP inhibits GTP cyclohydrolase I activity and biosynthesis of tetrahydrobiopterin in human umbilical vein endothelial cells."J. Pharmacol. Sci. 93:265-271(2003) [PubMed] [Europe PMC] [Abstract]
  19. "GTP cyclohydrolase I utilizes metal-free GTP as its substrate."Eur. J. Biochem. 271:349-355(2004) [PubMed] [Europe PMC] [Abstract]
  20. "The assays of activities and function of TH, AADC, and GCH1 and their potential use in ex vivo gene therapy of PD."Brain Res. Brain Res. Protoc. 16:37-43(2005) [PubMed] [Europe PMC] [Abstract]
  21. "Cytokine-stimulated GTP cyclohydrolase I expression in endothelial cells requires coordinated activation of nuclear factor-kappaB and Stat1/Stat3."Circ. Res. 96:164-171(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Changes in tetrahydrobiopterin levels in endothelial cells and adult cardiomyocytes induced by LPS and hydrogen peroxide -- a role for GFRP?"Free Radic. Biol. Med. 38:481-491(2005) [PubMed] [Europe PMC] [Abstract]
  23. "Interaction of human GTP cyclohydrolase I with its splice variants."Biochem. J. 400:75-80(2006) [PubMed] [Europe PMC] [Abstract]
  24. "GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes."J. Invest. Dermatol. 126:2481-2489(2006) [PubMed] [Europe PMC] [Abstract]
  25. "A yeast 2-hybrid analysis of human GTP cyclohydrolase I protein interactions."J. Neurochem. 97:1447-1455(2006) [PubMed] [Europe PMC] [Abstract]
  26. "GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence." Nat. Med. 12:1269-1277(2006) [PubMed] [Europe PMC] [Abstract]
  27. "Regulation of tetrahydrobiopterin biosynthesis by shear stress."Circ. Res. 101:830-838(2007) [PubMed] [Europe PMC] [Abstract]
  28. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  29. "Zinc plays a key role in human and bacterial GTP cyclohydrolase I."Proc. Natl. Acad. Sci. U.S.A. 97:13567-13572(2000) [PubMed] [Europe PMC] [Abstract]
  30. "Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene."Nat. Genet. 8:236-242(1994) [PubMed] [Europe PMC] [Abstract]
  31. "GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation."Neurosci. Lett. 196:5-8(1995) [PubMed] [Europe PMC] [Abstract]
  32. "Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset."Ann. Neurol. 40:796-798(1996) [PubMed] [Europe PMC] [Abstract]
  33. "Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity."Hum. Mol. Genet. 5:403-406(1996) [PubMed] [Europe PMC] [Abstract]
  34. "A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia."J. Neurol. Neurosurg. Psych. 62:420-421(1997) [PubMed] [Europe PMC] [Abstract]
  35. "GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs."J. Neurol. Neurosurg. Psych. 63:304-308(1997) [PubMed] [Europe PMC] [Abstract]
  36. "Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations."Ann. Neurol. 44:10-16(1998) [PubMed] [Europe PMC] [Abstract]
  37. "Dopa-responsive dystonia: a clinical and molecular genetic study."Ann. Neurol. 44:649-656(1998) [PubMed] [Europe PMC] [Abstract]
  38. "Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation."Hum. Genet. 105:226-230(1999) [PubMed] [Europe PMC] [Abstract]
  39. "Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia."J. Neurochem. 73:2510-2516(1999) [PubMed] [Europe PMC] [Abstract]
  40. "A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form."NeuroReport 10:487-491(1999) [PubMed] [Europe PMC] [Abstract]
  41. "A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia."Neurosci. Lett. 260:181-184(1999) [PubMed] [Europe PMC] [Abstract]
  42. "Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?"Brain 123:1112-1121(2000) [PubMed] [Europe PMC] [Abstract]
  43. "Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group."Neurology 55:1735-1737(2000) [PubMed] [Europe PMC] [Abstract]
  44. "Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome."Neurology 59:1241-1243(2002) [PubMed] [Europe PMC] [Abstract]
  45. "Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia."Arch. Neurol. 63:1605-1610(2006) [PubMed] [Europe PMC] [Abstract]
  46. "GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients."PLoS ONE 8:E65215-E65215(2013) [PubMed] [Europe PMC] [Abstract]