Literature summary for 1.14.16.1 extracted from

Bercovich, D.; Elimelech, A.; Yardeni, T.; Korem, S.; Zlotogora, J.; Gal, N.; Goldstein, N.; Vilensky, B.; Segev, R.; Avraham, S.; Loewenthal, R.; Schwartz, G.; Anikster, Y.
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population (2008), Ann. Hum. Genet., 72, 305-309.

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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
additional information	determination of mutations in gene pah in patients with phenylketonuria in different Israelian populations, genotyping, genotype-phenotype correlation, 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	-	?

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

Cofactor

Cofactor	Comment	Organism	Structure
tetrahydrobiopterin	-	Homo sapiens

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Release 2023.1 (January 2023)