PAH, Official Symbol PAHprovided by HGNC Official Full Name phenylalanine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:8582 See related Ensembl:ENSG00000171759 MIM:612349; AllianceGenome:HGNC:8582 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PH; PKU; PKU1 Summary 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] Expression Biased expression in liver (RPKM 237.1), kidney (RPKM 166.4) and 1 other tissue See more Orthologs mouse all