PTS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PTS wild-type allele is located in the vicinity of 11q23.1 and is approximately 44 kb in length. This allele, which encodes 6-pyruvoyl tetrahydrobiopterin synthase protein, is involved in the biosynthesis of tetrahydrobiopterin, which is an essential cofactor for aromatic amino acid hydroxylases. Mutations in the gene are associated with BH4-deficient hyperphenylalaninemia A.

**Synonyms:** - 6-Pyruvoyltetrahydropterin Synthase wt Allele - PTPS