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Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH 4, a pteridine cofactor) and a non-heme iron for catalysis.
The PAH gene is located on chromosome 12 in the bands 12q22-q24.2. [22] As of 2000, around 400 disease-causing mutations had been found in the PAH gene. This is an example of allelic genetic heterogeneity. [5]
Mutations in the TBX4 that cause small patella syndrome are also associated with childhood-onset pulmonary arterial hypertension (PAH). [13] Deletion of 17q23.2 (which includes the TBX4 gene) or a point mutation in the TBX4 gene is reported in 30% of patients with childhood-onset PAH, whereas TBX4 gene mutations are associated with low ...
PKU is caused by a mutation in the PAH gene, whose role is to instruct the body on how to make phenylalanine hydroxylase. Phenylalanine hydroxylase is what converts the phenylalanine, taken in through diet, into other things that the body can use.
These infants exhibit normal phenylalanine hydroxylase (PAH) enzymatic activity but have a deficiency in dihydropteridine reductase (DHPR), an enzyme required for the regeneration of tetrahydrobiopterin (THB or BH 4), a cofactor of PAH. [citation needed] Less frequently, DHPR activity is normal but a defect in the biosynthesis of THB exists. In ...
A Polycyclic aromatic hydrocarbon (PAH) is a class of organic compounds that is composed of multiple aromatic rings. Most are produced by the incomplete combustion of organic matter — by engine exhaust fumes, tobacco, incinerators, in roasted meats and cereals, [ 1 ] or when biomass burns at lower temperatures as in forest fires .
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