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

BRENDA support

Literature summary for 1.14.16.1 extracted from

  • Bercovich, D.; Elimelech, A.; Zlotogora, J.; Korem, S.; Yardeni, T.; Gal, N.; Goldstein, N.; Vilensky, B.; Segev, R.; Avraham, S.; Loewenthal, R.; Schwartz, G.; Anikster, Y.
    Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene (2008), J. Hum. Genet., 53, 407-418.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene pah, DNA and amino acid sequence determination and analysis, genotyping, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
D415N naturally occuring missense mutation causing a mild phenylketonuria phenotype Homo sapiens
H271Q naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype Homo sapiens
I174V naturally occuring missense mutation causing a mild phenylketonuria phenotype Homo sapiens
I95F naturally occuring missense mutation causing a mild phenylketonuria phenotype Homo sapiens
L197F naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype Homo sapiens
additional information determination of mutations in gene pah in patients with phenylketonuria, screening and genotyping, genotype-phenotype correlation in the different ethnic groups of Israel, responsiveness of mutants to tetrahydrobiopterin treatment, overview Homo sapiens
P225T naturally occuring knockout missense mutation leading to a severe phenylketonuria phenotype Homo sapiens
P281L naturally occuring missense mutation causing a severe phenylketonuria phenotype Homo sapiens
R158Q naturally occuring missense mutation causing a severe phenylketonuria phenotype Homo sapiens
R252W naturally occuring missense mutation causing a severe phenylketonuria phenotype Homo sapiens
R261P naturally occuring missense mutation causing a mild phenylketonuria phenotype Homo sapiens
R261Q naturally occuring missense mutation causing a severe phenylketonuria phenotype Homo sapiens
S349P naturally occuring missense mutation causing a severe phenylketonuria phenotype 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 enzyme mutations can lead to phenylketonuria, 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 enzyme mutations can lead to phenylketonuria, overview Homo sapiens L-tyrosine + 4a-hydroxytetrahydrobiopterin
-
?

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
tetrahydrobiopterin
-
Homo sapiens