EC Number   |
General Information |
Reference |
|---|
    1.14.16.1 | malfunction |
a pah null mutant and an episomal complemented overexpressing derivative (pah-/+PAH) are generated. Wild-type but not null mutants parasites show reactivity with an antibody to melanin when grown with l-3,4-dihydroxyphenylalanine. Wild-type is auxotrophic for Phe, Trp and Tyr, suggesting that PAH activity is insufficient to meet normal Tyr requirements. PAH null mutants show an increased sensitivity to Tyr deprivation, while the pah-/+PAH overexpressor shows increased survival and can be adapted to grow well without added Tyr. PAH null mutant shows no alterations in tetrahydrobiopterin-dependent differentiation |
712979 |
| 1.14.16.1 | malfunction |
dysfunctional phenylalanine hydroxylase leads to phenylketonuria |
-, 727648 |
| 1.14.16.1 | malfunction |
missense mutations of the enzyme are associated with the monogenic disease phenylketonuria |
728775 |
| 1.14.16.1 | malfunction |
phenylalanine hydroxylase dysfunction causes phenylketonuria |
726815 |
| 1.14.16.1 | malfunction |
phenylketonuria is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase |
697799 |
| 1.14.16.1 | malfunction |
phenylketonuria results from defects in phenylalanine hydroxylase |
699374 |
| 1.14.16.1 | physiological function |
key enzyme in the sulfoxidation of S-carboxymethyl-L-cysteine S-oxide and its thioester metabolites S-methyl-L-cysteine, N-acetyl-S-carboxymethyl-L-cysteine, and N-acetyl-S-methyl-L-cysteine |
697830 |
| 1.14.16.1 | physiological function |
the enzyme has a major functional role in the synthesis of pyomelanin and promotes growth in media lacking tyrosine |
-, 728584 |
