Explain the stages that happens when a mutation in the PAH gene may result in a change to the amino acid sequence of the PAH enzyme...
...from working? Please explain the stages it goes through from the start to the finish. Don't want to know how to find it i.e seen from urine, but JUST NEED the PROCESS. Please show the conversion .
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PAH, or phenylalanine hydroxylase, is an enzyme that catalyzes the reaction responsible for the addition of the hydroxyl group to the end of the aromatic 6-carbon ring of phenylalanine, such that it becomes tyrosine. PAH is the rate-limiting enzyme of the metabolic pathway which degrades excess phenylalanine.
Mutations in PAH which result in lower activity are the cause of the disease phenyketonuria, or PKU. This is an accumulation of phenylalanine, which is converted into phenylketone, which is detected in the urine. The PAH gene is located on chromosome 12 in the bands of 12q22 - q24.1. More than 400 disease-causing mutations have been found in the PAH gene. Check the reference links listed to see the structure change listed for PAH enzyme.
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