GeneID: 105



Names

Common Name: GCH1 Type: Gene
Chromosome: 14 (NC_000014.9) Locus: NG_008647.1 (GCH1)
HUGO Symbol: GCH1 Full Name: GTP cyclohydrolase 1
Exons: 6 Introns: 5

Description:
The encoded protein is a key enzyme in the biosynthesis of tetrahydrobiopterin (BH4), an essential co-factor for catecholamine, serotonin and nitric oxide production. GCH1 is the first and rate-limiting step in the BH4 synthesis pathway, catalysing the conversion of GTP to 7,8-dihydroneopterin triphosphate. The bioavailability of BH4 appears to influence several systems, including neurons and thus neuropathic pain. The encoded protein is a homodecamer formed by the association of two pentamers, each containing a catalytic pocket at their center. Mutations affecting GCH1 catalytic activity have been associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Polymorphisms in this gene associated with vaso-occlusive crises in sickle cell patients. Several alternatively spliced transcript variants encoding different isoforms have been described, but not all variants produce functional enzymes.

Synonyms: GCH , DYT5 , DYT14 , DYT5a , GTPCH1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Latremoliere A, Costigan M, GCH1, BH4 and pain., Curr Pharm Biotechnol , 12(10), 1728-41, 2011 PubMed
  2. Belfer I, Youngblood V, Darbari DS, Wang Z, Diaw L, Freeman L, Desai K, Dizon M, Allen D, Cunnington C, Channon KM, Milton J, Hartley SW, Nolan V, Kato GJ, Steinberg MH, Goldman D, Taylor JG, A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia., Am. J. Hematol. , 89(2), 187-93, 2014 PubMed
Created on 2016-04-27 11:46:32, Last reviewed on (Show full history)


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