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This family contains the paired amphipathic helix (PAH) repeat.
Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH).
This is the only role of PAH in the body.
Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine.
The PAH gene and its PKU mutations are found on chromosome 12 in the human genome.