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Literature summary for 1.14.16.1 extracted from

  • Stojiljkovic, M.; Perez, B.; Desviat, L.R.; Aguado, C.; Ugarte, M.; Pavlovic, S.
    The missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro (2009), Protein J., 28, 294-299.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
L-phenylalanine
-
Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
wild type and mutant enzyme S231F are expressed in Escherichia coli BL21(DE3) and human hepatoma cells, in the cells supplemented with sepiapterin the amount of expressed S231F PAH increases up to 25% Homo sapiens

Protein Variants

Protein Variants Comment Organism
S231F the missense phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro (residual enzyme activity in vitro is about 1%) as it drastically reduces stability and activity of the PAH enzyme, the mutant enzyme is not activated by pre-incubation with L-phenylalanine substrate Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
94000
-
approximately 94000 Da, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00439
-
-

Purification (Commentary)

Purification (Comment) Organism
amylose column chromatography Homo sapiens

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.0049
-
L-phenylalanine-activated mutant enzyme S231F, at 25°C Homo sapiens
0.0052
-
non-L-phenylalanine-activated mutant enzyme S231F, at 25°C Homo sapiens
0.4169
-
non-L-phenylalanine-activated wild type enzyme, at 25°C Homo sapiens
0.7418
-
L-phenylalanine-activated wild type enzyme, at 25°C Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + 5,6,7,8-tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Synonyms

Synonyms Comment Organism
PAH
-
Homo sapiens
phenylalanine hydroxylase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
5,6,7,8-tetrahydro-L-biopterin
-
Homo sapiens