phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. Note: This description may include information from UniProtKB.
Protein type: EC 22.214.171.124; Amino Acid Metabolism - phenylalanine, tyrosine and tryptophan biosynthesis; Oxidoreductase
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.