Cloned (Comment) | Organism |
---|---|
gene pah, DNA and amino acid sequence determination and analysis, genotyping of a Southern Italian population, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A300S | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
A395G | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
A403V | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
L48S | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
additional information | identification of mutations involved in hyperphenylalaninemia and/or in phenylketonuria, genotyping of a Southern Italian population, overview | Homo sapiens |
P281L | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
P366H | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
R158W | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
R261Q | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, overview | Homo sapiens |
R408W | naturally occuring mutation involved in hyperphenylalaninemia and/or in phenylketonuria, 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 | - |
? | |
additional information | Homo sapiens | hyperphenylalaninemia comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase gene mutations | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene pah | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? | |
additional information | hyperphenylalaninemia comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase gene mutations | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
phenylalanine hydroxylase | - |
Homo sapiens |
PheOH | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | required for activity, binding involves Ph254 and Tyr325, structure overview | Homo sapiens |