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What is Phenylalanine Hydroxylase?

April 26, 2017hydroxylase phenylalanine

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What is Phenylalanine Hydroxylase?

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Phenylalanine Hydroxylse (PheOH) is an enzyme coded for by the PAH gene, found on human chromosome 12. PheOH is responsible for the conversion of the amino acid phenylalanine (phe) to tyrosine. It is regulated by the substrates phenylalanine, tetrahydrobiopterin, and phosphorylation (Kobe et al. 1999). PheOH has two forms, consisting of two or four identical subunits, present in equilibrium; the tetrameric form of PheOH is shown below (Kobe et al. 1999). (Genetics Home Reference 2005 ) Mutations in PAH can result in the genetic disorder Phenylketonuria (PKU), causing an increase in the plasma concentration of phe. Normal uptake of phe in one’s diet is regulated by PheOH, but those with PKU have an intolerance to dietary phe because of their inability to catalyze the amino acid. Symptoms most common to PKU include high blood serum levels of phe, lighter skin and hair pigmentation, and mental retardation (OMIM 2004;