Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GCH1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GCH1

Definition : Molecular assay reagents intended to identify mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) gene, located at chromosome 14q22.1-q22.2, which encodes for the enzyme guanosine triphosphate (GTP) cyclohydrolase, important in the manufacture of tetrahydrobiopterin (BH4). BH4 is essential for the normal function of several enzymes. Mutations at this locus have been identified in more than half of patients with early childhood onset of a severe form of dystonia type 5 (DYT5).

Entry Terms : "Cyclohydrolase 1 (GTPCH1) Deficiency Dystonia Gene Mutation Detection Reagents" , "Guanosine Triphosphate Gene Mutation Detection Reagents" , "Sagawa Disease Gene Mutation Detection Reagents" , "Hereditary Progressive Dystonia Gene Mutation Detection Reagents" , "Dystonia-Parkinsonism Gene Mutation Detection Reagents" , "Dystonia Type 5 (DYT5) Gene Mutation Detection Reagents" , "Dopa responsive Dystonia (DRD) Gene Mutation Detection Reagents" , "GCH1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GCH1"

UMDC code : 24440

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