{"symbol":"PAH","synonyms":["PKU1","PKU","PH"],"name":"phenylalanine hydroxylase","description":"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]","ncbiEntrezGeneId":5053,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5053","proteins":[{"symbol":"PH4H_HUMAN","href":"/api/1.0/protein/PH4H_HUMAN"}],"hgncRootFamilies":[]}