Phenylalanine hydroxylase
Phenylalanine hydroxylase (PAH) is an enzyme that is critical in the metabolic process of the amino acid phenylalanine. It is encoded by the PAH gene and is primarily found in the liver.
Function[edit | edit source]
Phenylalanine hydroxylase catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. This reaction requires molecular oxygen and tetrahydrobiopterin as cofactors.
Clinical significance[edit | edit source]
Deficiency of PAH activity results in phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism. PKU is characterized by elevated levels of phenylalanine in the blood and central nervous system, and can lead to mental retardation if untreated.
Genetics[edit | edit source]
The PAH gene is located on the long arm of chromosome 12 (12q23.2). Mutations in this gene result in phenylketonuria and less commonly, hyperphenylalaninemia.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
