Protein Variants | Comment | Organism |
---|---|---|
I65T/R408W | naturally occuring mutation involved in phenylketonuria | Homo sapiens |
L212P | naturally occuring mutation involved in phenylketonuria | Homo sapiens |
additional information | phenylketonuria, PKU, results from mutations in the pah gene and is characterized by elevated phenylalanine levels in the plasma, the specific category of PKU since classical PKU requires a stringent diet while milder categories may not require diet and a very important BH4-responsive category may be treated with the PAH cofactor 6R-tetrahydrobiopterin, there is a close genotype-phenotype correlation in PKU, so genotyping is very important for diagnosis and therapy, overview | Homo sapiens |
R261Q | naturally occuring mutation involved in phenylketonuria | Homo sapiens |
R408W | naturally occuring mutation involved in phenylketonuria | 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 | Q8TEY0 | gene pah | - |
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 |