" /> GCH1 wt Allele - CISMeF





Preferred Label : GCH1 wt Allele;

NCIt synonyms : GCH; Dopa-Responsive Dystonia Gene; HPABH4B; GTP-CH-1; Guanosine 5'-Triphosphate Cyclohydrolase I Gene; GTP Cyclohydrolase 1 wt Allele; DYT5; Dystonia 14 Gene; DYT14; GTPCH1; DYT5a;

NCIt definition : Human GCH1 wild-type allele is located in the vicinity of 14q22.2 and is approximately 61 kb in length. This allele, which encodes GTP cyclohydrolase 1 protein, plays a role in GTP metabolism and tetrahydrobiopterin biosynthesis. Mutation of the gene is associated with autosomal dominant dopa-responsive dystonia and BH4-deficient hyperphenylalaninemia B.;

NCI Metathesaurus CUI : CL1920847;

GenBank Accession Number : U19523;

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31/07/2025


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