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Literature summary for 1.14.16.1 extracted from

  • Dobrowolski, S.F.; Borski, K.; Ellingson, C.C.; Koch, R.; Levy, H.L.; Naylor, E.W.
    A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin (2009), J. Hum. Genet., 54, 335-339.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R408W the mutation is associated with phenylketonuria Homo sapiens
Y166X the mutation is associated with phenylketonuria Homo sapiens

Organism

Organism UniProt Comment Textmining
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