PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.
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Protein Aliases: PAH; Phe-4-monooxygenase; phenylalanine 4-monooxygenase; Phenylalanine-4-hydroxylase
Gene Aliases: AW106920; PAH; PH; PKU; PKU1