GCH1 wt Allele

**Semantic type:** Gene or Genome

**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.

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