Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant enzymes in SH-SY5Y neuroblastoma cells, expression analysis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
887insA | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
G748A | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
G748C | site-directed mutagenesis, the mutant shows reduced expression and subcellular distribution compared to the wild-type enzyme | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytosol | - |
Homo sapiens | 5829 | - |
nucleus | - |
Homo sapiens | 5634 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | Homo sapiens | enzyme defects are involved in acute intermittent porphyria, AIP, a neuropathic disease | hydroxymethylbilane + 4 NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
activity of recombinant wild-type and mutant enzymes in transfected SH-SY5Y neuroblastoma cells, overview | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
4 porphobilinogen + H2O | enzyme defects are involved in acute intermittent porphyria, AIP, a neuropathic disease | Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PBGD | - |
Homo sapiens |
porphobilinogen deaminase | - |
Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
8.2 | - |
assay at | Homo sapiens |