6-pyruvoyl tetrahydrobiopterin synthase

Function

Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Involvement in disease

Hyperphenylalaninemia, BH4-deficient, A

HPABH4A

An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.

Post-translational modifications

Phosphorylation of Ser-19 is required for maximal enzyme activity.

Sequence Similarities

Belongs to the PTPS family.

Alternative names

6-pyruvoyl tetrahydrobiopterin synthase, PTP synthase, PTPS, PTS

Database links

swissprot:Q03393 genbank:NP_000308.1 entrezGene:5805 omim:612719