Protein Variants | Comment | Organism |
---|---|---|
additional information | enzyme mutation can lead to tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. BH4 responsiveness in hyperphenylalaninaemia depends on the patient's genotype and residual PAH activity, of patients with moderate and classic forms of phenylketonuria, only a few are classified as responders and the clinical significance of the effect size may be small, molecular mechanism, phenotypes and clinical treatment, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | - |
L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | - |
Homo sapiens |