" /> PTS wt Allele - CISMeF





Preferred Label : PTS wt Allele;

NCIt synonyms : 6-Pyruvoyltetrahydropterin Synthase wt Allele; PTPS;

NCIt 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.;

NCI Metathesaurus CUI : CL1927400;

GenBank Accession Number : U63382;

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01/06/2025


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