Aliases for PAH Gene
External Ids for PAH Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PAH Gene
PAH (Phenylalanine Hydroxylase) is a Protein Coding gene. Diseases associated with PAH include phenylketonuria and tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include iron ion binding and amino acid binding. An important paralog of this gene is TPH1.