Literature summary for 1.14.16.1 extracted from

Dobrowolski, S.F.; Ellingson, C.; Coyne, T.; Grey, J.; Martin, R.; Naylor, E.W.; Koch, R.; Levy, H.L.
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles (2007), Mol. Genet. Metab., 91, 218-227.

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Protein Variants

Protein Variants	Comment	Organism
I65T/R408W	naturally occuring mutation involved in phenylketonuria	Homo sapiens
L212P	naturally occuring mutation involved in phenylketonuria	Homo sapiens
additional information	phenylketonuria, PKU, results from mutations in the pah gene and is characterized by elevated phenylalanine levels in the plasma, the specific category of PKU since classical PKU requires a stringent diet while milder categories may not require diet and a very important BH4-responsive category may be treated with the PAH cofactor 6R-tetrahydrobiopterin, there is a close genotype-phenotype correlation in PKU, so genotyping is very important for diagnosis and therapy, overview	Homo sapiens
R261Q	naturally occuring mutation involved in phenylketonuria	Homo sapiens
R408W	naturally occuring mutation involved in phenylketonuria	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	Q8TEY0	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	-	?

Synonyms

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

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Release 2023.1 (January 2023)