Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.14.16.1 extracted from

  • Yu, W.; He, J.; Yang, X.; Zou, H.; Gui, J.; Wang, R.; Yang, L.; Wang, Z.; Lei, Q.
    Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China (2014), Int. J. Clin. Exp. Med., 7, 4406-4412 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.14.16.1

Protein Variants

Protein Variants Comment Organism
A300S the mutation is associated with phenylketonuria Homo sapiens
A434D the mutation is associated with phenylketonuria Homo sapiens
E280G the mutation is associated with phenylketonuria Homo sapiens
E280K the mutation is associated with phenylketonuria Homo sapiens
F161S the mutation is associated with phenylketonuria Homo sapiens
G247V the mutation is associated with phenylketonuria Homo sapiens
I65T the mutation is associated with phenylketonuria Homo sapiens
L255S the mutation is associated with phenylketonuria Homo sapiens
L348V the mutation is associated with phenylketonuria Homo sapiens
P281L the mutation is associated with phenylketonuria Homo sapiens
Q232X the mutation is associated with phenylketonuria Homo sapiens
R111X the mutation is associated with phenylketonuria Homo sapiens
R155H the mutation is associated with phenylketonuria Homo sapiens
R158Q the mutation is associated with phenylketonuria Homo sapiens
R176X the mutation is associated with phenylketonuria Homo sapiens
R243Q the mutation is associated with phenylketonuria Homo sapiens
R261Q the mutation is associated with phenylketonuria Homo sapiens
R313P the mutation is associated with phenylketonuria Homo sapiens
R408W the mutation is associated with phenylketonuria Homo sapiens
Y166X the mutation is associated with phenylketonuria Homo sapiens
Y356X the mutation is associated with phenylketonuria 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
-
-
-

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