PAH (R400) polyclonal antibody

The PAH gene encodes the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine and is the rate-limiting enzyme in phenylalanine catabolism. Mammalian PAH is a soluble, homotetrameric protein which is abundantly expressed in human liver. Deficiency of PAH activity results in the autosomal recessive disorder phenylketonuria (PKU), which is characterized by mental retardation unless a low phenylalanine diet is introduced early in life. The PAH gene, which maps to human chromosome 12q23.2, contains all the genetic information necessary to code for functional PAH, demonstrating that a single gene is involved in the classic disease phenotype.