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

BRENDA support

Literature summary for 1.14.16.1 extracted from

  • Wang, L.; Surendran, S.; Michals-Matalon, K.; Bhatia, G.; Tanskley, S.; Koch, R.; Grady, J.; Tyring, S.K.; Stevens, R.C.; Guttler, F.; Matalon, R.
    Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin (2007), Genet. Test., 11, 174-178.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene pah, DNA and amino acid sequence determination of wild-type and mutant enzymes, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
A104D naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia Homo sapiens
F39L/F55fsdelT naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria Homo sapiens
F39L/P281L naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria Homo sapiens
F39L/R408W naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria Homo sapiens
G46S naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia Homo sapiens
I65T/R408W naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria Homo sapiens
I65T/R68S naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes a mild form of phenylketonuria Homo sapiens
I97L naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia Homo sapiens
additional information mutations in the pah gene can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, the extent depends on the type of disorder, phenotypes, overview Homo sapiens
R68S/R408W naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria Homo sapiens
R71C naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia 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 mutations in the pah gene, e.g. manifestating in the regulatory domain, can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, overview 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
-
?
L-phenylalanine + tetrahydrobiopterin + O2 mutations in the pah gene, e.g. manifestating in the regulatory domain, can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, overview Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Cofactor

Cofactor Comment Organism Structure
tetrahydrobiopterin
-
Homo sapiens