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PAH

Official Full Name
phenylalanine hydroxylase
Organism
Homo sapiens
GeneID
5053
Background
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Synonyms
PH; PKU; PKU1;

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