Cloned (Comment) | Organism |
---|---|
gene pah, DNA and amino acid sequence determination of wild-type and mutant enzymes, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A104D | naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia | Homo sapiens |
F39L/F55fsdelT | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria | Homo sapiens |
F39L/P281L | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria | Homo sapiens |
F39L/R408W | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria | Homo sapiens |
G46S | naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia | Homo sapiens |
I65T/R408W | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes the classical form of phenylketonuria | Homo sapiens |
I65T/R68S | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes a mild form of phenylketonuria | Homo sapiens |
I97L | naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia | Homo sapiens |
additional information | mutations in the pah gene can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, the extent depends on the type of disorder, phenotypes, overview | Homo sapiens |
R68S/R408W | naturally occuring mutation in the regulatory domain, that affects enzyme activity and causes an atypical form of phenylketonuria | Homo sapiens |
R71C | naturally occuring mutation in the regulatory domain, that affects enzyme activity and is involved in the disorder hyperphenylalaninemia | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | mutations in the pah gene, e.g. manifestating in the regulatory domain, can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, overview | 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 | - |
? | |
L-phenylalanine + tetrahydrobiopterin + O2 | mutations in the pah gene, e.g. manifestating in the regulatory domain, can lead to phenylketonuria, patients respond to treatment with tetrahydrobiopterin, overview | Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | - |
Homo sapiens |