Cloned (Comment) | Organism |
---|---|
PBGD gene, DNA and amino acid sequence determination and analysis, expression of GST-tagged wild-type and mutant enzymes in Escherichia coli BL21 (DE3) | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of a mutation in the porphobilinogen deaminase gene in a Slovak acute intermittent porphyria patient, phenotype, the recombinantly expressed mutant enzyme shows 0.18% of wild-type activity, overview | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
42000 | - |
x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE | Homo sapiens |
68000 | - |
x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | Homo sapiens | the enzyme is important in heme biosynthesis, a nonsense mutation in the porphobilinogen deaminase gene causes acute intermittent porphyria, AIP, overview, eight enzymes are involved in the heme synthesis and defects in seven of them cause porphyria, overview | hydroxymethylbilane + 4 NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Purification (Comment) | Organism |
---|---|
recombinant GST-tagged wild-type and mutant enzymes from Escherichia coli BL21 (DE3) by glutathione affinity chromatography, the GST-tag is cleaved off | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
nervous system | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.000039 | - |
purified recombinant GST-tagged mutant enzyme | Homo sapiens |
0.022 | - |
purified recombinant GST-tagged wild-type enzyme | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
4 porphobilinogen + H2O | the enzyme is important in heme biosynthesis, a nonsense mutation in the porphobilinogen deaminase gene causes acute intermittent porphyria, AIP, overview, eight enzymes are involved in the heme synthesis and defects in seven of them cause porphyria, overview | Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE | Homo sapiens |
More | three-dimensional enzyme structure, computer-based structural modeling, overview | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
PBGD | - |
Homo sapiens |
porphobilinogen deaminase | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
8.2 | - |
assay at | Homo sapiens |