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 maternal hyperphenylalaninemia and benign hyperphenylalaninemia. 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.