Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

Official Name

6-pyruvoyltetrahydropterin synthase

Name from literature

pyruvoyl tetrahydropterin synthase

Pathway from literature

synthesizing BH4/the synthesis of human tetrahydrobiopterin

Pathway from KEGG

Metabolism of Cofactors and Vitamins; Folate biosynthesis; map00790


Human (9606)

Genome localization

11q22.3-q23.3[5805 ],


Catalyses triphosphate elimination and an intramolecular redox reaction in the presence of Mg2+. It has been identified in human liver. This enzyme is involved in the de novo synthesis of tetrahydrobiopterin from GTP, with the other enzymes involved being EC (sepiapterin reductase) and EC (GTP cyclohydrolase I) [3].

Rate-limiting Description

"Neither the mRNA expression of the rate-limiting enzyme in tetrahydrobiopterin biosynthesis, GTP cyclohydrolase I, nor the activities of either GTP cyclohydrolase I or 6-pyruvoyl-tetrahydropterin synthase, the second enzyme in the de novo synthesis pathway, were altered by ascorbate." (11022034)

"Enzymes involved in its synthesis are the rate limiting enzyme GTP cyclohydrolase I, 6-pyruvoyl tetrahydropterin synthase (PTPS) and sepiapterin reductase." (11778454)

"In addition, we also measured 6-pyruvoyl tetrahydropterin synthase (PTPS) activities, the rate-limiting enzyme in synthesizing BH4, in pregnant women at the 30th gestational week and non-pregnant women." (11744995)

"Although GTPCH is believed to be the rate-limiting step, control of endothelial PTPS expression by cytokines may play an important role in regulating BH4-dependent nitric oxide production in the vascular system." (9788822)

Regulatory Information

Regulatory type



"Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II." (10531334#7493990)




Q03393:from_uniprot:19_Phosphoserine; by PKG

Gene ontology

Gene ontology

GO:0008270 (F) zinc ion binding [Q03393 ];
GO:0042802 (F) identical protein binding [Q03393 ];
GO:0007417 (P) central nervous system development [Q03393 ];
GO:0006729 (P) tetrahydrobiopterin biosynthetic process [Q03393 ];
GO:0005739 (C) mitochondrion [Q03393 ];
GO:0006559 (P) L-phenylalanine catabolic process [Q03393 ];
GO:0003874 (F) 6-pyruvoyltetrahydropterin synthase activity [Q03393 ];

Disease relevance


Defects in PTS are a cause of hyperphenylalaninemia (HPA) [MIM:261640]. HPA is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet [Q03393 ];




Entrez Gene




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  Last Modified: 2009-03-24  
  Design by Zhao Min