Cloned (Comment) | Organism |
---|---|
DNA and amino acid sequence analysis of wild-type and mutant enzymes, expression of His6-tagged, catalytically active, heterozygous enzymes with one mutated allele | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
I65T | naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme | Homo sapiens |
additional information | identification of mutations, that alter the interaction of subunits, which could be a source of phenotypic variation in genetic diseases involving multimeric proteins, e.g. in hypephenylalaninemia, overview | Homo sapiens |
R261Q | naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme | Homo sapiens |
R270K | naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme | Homo sapiens |
V388M | naturally occuring mutation involved in hyperphenylalaninemia of heterozygous patients, sequence analysis, the heterologous mutant shows reduced activity compared to the wild-type enzyme | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
52000 | - |
x * 52000, recombinant wild-type and mutant enzymes, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + tetrahydrobiopterin + O2 | Homo sapiens | - |
L-tyrosine + 4a-hydroxy-tetrahydrobiopterin | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00439 | - |
- |
Purification (Comment) | Organism |
---|---|
recombinant His6-tagged, catalytically active, heterozygous enzymes with one mutated allele, from bacteria by nickel affinity chromatography, excision of the His-tag | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + 6-methyl-tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 6-methyl-4a-hydroxy-tetrahydrobiopterin | - |
? | |
L-phenylalanine + tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxy-tetrahydrobiopterin | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 52000, recombinant wild-type and mutant enzymes, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
6-methyl-tetrahydrobiopterin | - |
Homo sapiens | |
tetrahydrobiopterin | - |
Homo sapiens |