Cloned (Comment) | Organism |
---|---|
gene pah, DNA and amino acid sequence determination and analysis, genotyping, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A403V | frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria | Homo sapiens |
I65T | frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria | Homo sapiens |
L48S | frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria | Homo sapiens |
additional information | identification of 57 mutations in a wide range genotyping, the mutants show substantial residual PAH activity, average 47%, presumed to be associated with BH4-responsiveness, genotyping, genotype-phenotype correlation, overview | Homo sapiens |
R261Q | frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria | Homo sapiens |
Y414C | frequent naturally occuring mutation involved in enzyme deficiency and BH4-responsive hyperphenylalaninemia and/or phenylketonuria | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Fe2+ | bound in the active site, structure overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | enzyme mutations can lead to phenylketonuria and BH4-responsive hyperphenylalaninemia in case of enzyme deficiency | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | enzyme mutations can lead to phenylketonuria and BH4-responsive hyperphenylalaninemia in case of enzyme deficiency | Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? | |
L-phenylalanine + tetrahydrobiopterin + O2 | active site structure, overview | Homo sapiens | L-tyrosine + 4a-hydroxytetrahydrobiopterin | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrobiopterin | binding structure overview | Homo sapiens |