Literature summary for 1.14.16.1 extracted from

Kozak, L.; Hrabincova, E.; Kintr, J.; Horky, O.; Zapletalova, P.; Blahakova, I.; Mejstrik, P.; Prochazkova, D.
Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement (2006), Mol. Genet. Metab., 89, 300-309.

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Cloned(Commentary)

Cloned (Comment)	Organism
identification and sequence analysis of enzyme mutant genes with exon deletions isolated from 59 czech phenylketonuria patients, multiplex ligation-dependent probe amplification method	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme deletion mutations are involved in development of the autosomal recessive genetic disorder phenylketonuria, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme deletion mutations are involved in development of the autosomal recessive genetic disorder phenylketonuria, overview	Homo sapiens	?	-	?

Synonyms

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

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Release 2023.1 (January 2023)