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Literature summary for 1.14.16.1 extracted from

  • Pecimonova, M.; Polak, E.; Csicsay, F.; Reblova, K.; Stojiljkovic, M.; Levarski, Z.; Skultety, L.; Kadasi, L.; Soltysova, A.
    Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase (2017), Gen. Physiol. Biophys., 36, 361-371 .
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Hep-G2 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
F233I inactive Homo sapiens
F331S the mutant shows residual enzymatic activity in vitro compared to the wild type enzyme Homo sapiens
L358F the mutant shows residual enzymatic activity in vitro compared to the wild type enzyme Homo sapiens
R270I inactive Homo sapiens
S350Y inactive Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-phenylalanine + tetrahydrobiopterin + O2 Homo sapiens
-
L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens P00439
-
-

Substrates and Products (Substrate)

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

Synonyms

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