Literature summary for 1.14.16.1 extracted from

Zurflueh, M.R.; Zschocke, J.; Lindner, M.; Feillet, F.; Chery, C.; Burlina, A.; Stevens, R.C.; Thoeny, B.; Blau, N.
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (2008), Hum. Mutat., 29, 167-175.

Search for more literature for 1.14.16.1

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
A403V	frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria	Homo sapiens
I65T	frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria	Homo sapiens
L48S	frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria	Homo sapiens
additional information	identification of 57 mutations in a wide range genotyping, the mutants show substantial residual PAH activity, average 47%, presumed to be associated with BH4-responsiveness, genotyping, genotype-phenotype correlation, overview	Homo sapiens
R261Q	frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria	Homo sapiens
Y414C	frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria	Homo sapiens

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Fe2+	bound in the active site, structure 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	enzyme mutations can lead to phenylketonuria and BH4-responsive hyperphenylalaninemia in case of enzyme deficiency	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	enzyme mutations can lead to phenylketonuria and BH4-responsive hyperphenylalaninemia in case of enzyme deficiency	Homo sapiens	L-tyrosine + 4a-hydroxytetrahydrobiopterin	-	?
L-phenylalanine + tetrahydrobiopterin + O2	active site structure, overview	Homo sapiens	L-tyrosine + 4a-hydroxytetrahydrobiopterin	-	?

Synonyms

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

Cofactor

Cofactor	Comment	Organism	Structure
tetrahydrobiopterin	binding structure overview	Homo sapiens

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Release 2023.1 (January 2023)