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

BRENDA support

Literature summary for 1.14.16.1 extracted from

  • Daniele, A.; Cardillo, G.; Pennino, C.; Carbone, M.T.; Scognamiglio, D.; Correra, A.; Pignero, A.; Castaldo, G.; Salvatore, F.
    Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations (2007), Ann. Hum. Genet., 71, 185-193.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene pah, DNA and amino acid sequence determination and analysis, genotyping of a Southern Italian population, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A300S naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
A395G naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
A403V naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
L48S naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
additional information identification of mutations involved in hyperphenylalaninemia and/or in phenylketonuria, genotyping of a Southern Italian population, overview Homo sapiens
P281L naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
P366H naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
R158W naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
R261Q naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview Homo sapiens
R408W naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview 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
-
?
additional information Homo sapiens hyperphenylalaninemia comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase gene mutations ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
gene pah
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-phenylalanine + tetrahydrobiopterin + O2
-
Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?
additional information hyperphenylalaninemia comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase gene mutations Homo sapiens ?
-
?

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
tetrahydrobiopterin required for activity, binding involves Ph254 and Tyr325, structure overview Homo sapiens