Pah Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Phenylalanine hydroxylase
Phenylalanine hydroxylase
PAH Protein is a 527 aa protein encoded by the PAH gene. The protein localizes to Cytosol.
Phenylalanine hydroxylase is a iron-containing enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism and tyrosine biosynthesis.
Mutations cause phenylketonuria (PKU), the most common inherited metabolic disorder of amino acid metabolism, leading to intellectual disability if untreated.
PAH deficiency (PKU) is treated with dietary phenylalanine restriction, sapropterin (BH4 cofactor), and pegvaliase (PEGylated PAH).
The study of Pah Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.