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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.
Gene Name: | phenylalanine hydroxylase |
Synonyms: | PAH, Phe-4-monooxygenase, PKU1, PH, Phenylalanine 4-monooxygenase, Phe-4- monooxygenase, Phenylalanine hydroxylase, Phenylalanine-4-hydroxylase, PKU |
Target Sequences: | NM_000277 NP_000268.1 P00439 |
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