GCH1 wt Allele

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;

Details

Origin ID

C201641;

UMLS CUI

C5890972;

OMIM relation
- Gtp cyclohydrolase I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Folate Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Folic Acid Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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