Application | Comment | Organism |
---|---|---|
molecular biology | bicistronic expression system is developed which allows the isolation of hybrid forms that exhibit negative interallelic complementation, and may represent a model system for studying the molecular pathogenic mechanisms of PAH gene mutations in compound heterozygous phenylketonuric patients, providing the rationale to understand the observed inconsistencies both in genotype/phenotype correlations and in the response to (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin supplementation | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
DELTA1-102 | mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain. 96% of the truncated mutant exist as a tetramer. On coexpression of wild-type-hPAH and the N-terminally truncated form DELTA1-102 (~95% tetramer), heterotetramers, as a result of an assembly of two different homodimers, are isolated. The recovered (wild-type)/(DELTA1-102 mutant)-hPAH heterotetramers reveal a catalytic activity deviating significantly from that calculated by averaging the respective recombinant homotetrameric forms. The heterotetramer assembly also results in conformational changes in the WT-hPAH protomer, as detected by trypsin limited proteolysis | Homo sapiens |
DELTA1-102/DELTAC24 | mutant lacking the first 102 residues corresponding to the N-terminal regulatory domain and the last 24 residues at the C-terminal end corresponding to the tetramerisation motif. 81% of the truncated mutant exist as a dimer and 17% as an aggregated form. On co-expression of wild-type-hPAH (50% tetramer, 10% dimer) and the N- and C-terminally truncated form DELTA1-102/DELTAC24 (80% dimer) no heterodimers is recovered | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
95600 | - |
calculated from amino acid sequence | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
L-phenylalanine + (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + O2 | - |
Homo sapiens | L-tyrosine + 4a-hydroxy-(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin | - |
? |
Subunits | Comment | Organism |
---|---|---|
dimer | gel filtration, relative amount of wild-type: 8% | Homo sapiens |
More | 40% exist as aggregated forms | Homo sapiens |
tetramer | gel filtration, relative amount of wild-type: 52% | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
HPAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
25 | - |
assay at | Homo sapiens |