PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr

Stable Identifier
R-HSA-71118
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
Synonyms
phenylalanine + tetrahydrobiopterin + O2 => tyrosine + 4a-hydroxytetrahydrobiopterin + H2O
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PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr
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Inactivating mutations of cytosolic phenylalanine hydroxylase (PAH) block the normal reaction of phenylalanine, molecular oxygen and tetrahydrobiopterin to form tyrosine, water, and 4 alpha-hydroxytetrahydrobiopterin. Excess phenylalanine accumulates as a result, driving the formation of abnormally high levels of phenylpyruvate, and phenyllactate (Guldberg et al. 1996; Mitchell et al. 2011) in reactions not annotated here.

Literature References
PubMed ID Title Journal Year
8889590 Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations

Guldberg, P, Mallmann, R, Henriksen, KF, Güttler, F

Hum Mutat 1996
9642259 Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.

Fusetti, F, Erlandsen, H, Flatmark, T, Stevens, RC

J Biol Chem 1998
  The Metabolic and Molecular Bases of Inherited Disease, 8th ed

Scriver, CR, Beaudet, AL, Valle, D, Sly, WS

  2001
Participants
Input
Output
Participant Of
hasEvent
Catalyst Activity
Catalyst Activity
Title
phenylalanine 4-monooxygenase activity of PAH:Fe2+ tetramer [cytosol]
Physical Entity
PAH:Fe2+ tetramer [cytosol]
Activity
phenylalanine 4-monooxygenase activity (0004505)
Orthologous Events
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Bos taurus)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Caenorhabditis elegans)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Canis familiaris)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Danio rerio)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Dictyostelium discoideum)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Drosophila melanogaster)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Gallus gallus)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Mus musculus)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Rattus norvegicus)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Sus scrofa)
PAH:Fe2+ tetramer hydroxylates L-Phe to L-Tyr (Xenopus tropicalis)
Authored
D'Eustachio, P  (2003-06-24)