Target intelligence / Profile preview

Phenylalanine 4-hydroxylase (PAH)

Target
PAH
Molecular classification
Enzyme, Biopterin-dependent aromatic amino acid hydroxylase
01

Overview

Phenylalanine 4-hydroxylase (PAH) is an enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine. This reaction is a critical step in phenylalanine catabolism and is essential for preventing toxic accumulation of phenylalanine in the body. Deficiency or dysfunction in PAH leads to hyperphenylalaninemia or classic phenylketonuria (PKU).

Other names
PKUPKU1phe-4-monooxygenasephenylalanine 4-monooxygenasePHPKU proteinphe-monooxygenasemonooxigenasa fenilalalinicapheApheB
02

Mechanism of action

Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine, requiring tetrahydrobiopterin (BH₄) and molecular oxygen.

03

Biological functions

Conversion of L-phenylalanine to L-tyrosinePhenylalanine catabolism
04

Disease associations

Phenylketonuria (PKU)HyperphenylalaninemiaNeurodevelopmental disorders
05

Safety considerations

Elevated phenylalanine levels can cause severe neurodevelopmental disorders if untreated in PKU patients.
06

Biomarkers

Phenylalanine levels in blood

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