Phenylalanine Hydroxylase (also known as PAH, PheOH, PheH) is an enzyme catalyzing hydroxylation of phenylalanine to make tyrosine. PAH is mainly found in liver and kidneys.[1] More than 500 mutations have been found for PAH.[1]
The most famous example of PAH mutation is related to the genetic disorder phenylketonuria. Patients with PKU have mutation in the PAH gene leading to inactivity of PAH, causing buildup of Phe and subsequent reduced mental development.
↑ abOlsson, Elaine et al. "The Aromatic Amino Acid Hydroxylase Mechanism: A Perspective From Computational Chemistry." Theoretical and Computational Inorganic Chemistry 62 (2010): 437-