Application | Comment | Organism |
---|---|---|
medicine | enzyme over-expression in hepatocytes reduces precursor accumulation, liver-directed gene therapy might offer an alternative to liver transplantation | Homo sapiens |
medicine | enzyme over-expression in hepatocytes reduces precursor accumulation, liver-directed gene therapy might offer an alternative to liver transplantation | Mus musculus |
Cloned (Comment) | Organism |
---|---|
pTRE-EalAAT-hPBGD-WPRE plasmid from pTRE2 vector expressed in mice hepatocytes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | disruption in one allele and partial disruption of other allele lead to 25-30% activity compared to wild type | Homo sapiens |
additional information | disruption in one allele and partial disruption of other allele lead to 25-30% activity compared to wild type | Mus musculus |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | Homo sapiens | - |
hydroxymethylbilane + 4 NH3 | - |
? | |
4 porphobilinogen + H2O | Mus musculus | - |
hydroxymethylbilane + 4 NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P08397 | lethally irradiated acute intermittent porphyria type C57BL/6-CD45.2 mice are treated with plasmids containing human enzyme genes, that are expressed in hepatocytes | - |
Mus musculus | P22907 | wild type, lethally irradiated acute intermittent porphyria mice, porphyria mice injected with bone marrow cells from wild type C57BL/6-CD45.1 mice or from acute intermittent porphyria mice | - |
Purification (Comment) | Organism |
---|---|
blood samples are washed in phosphate buffered saline, liver rinsed in phosphate buffered saline | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
erythrocyte | - |
Homo sapiens | - |
erythrocyte | - |
Mus musculus | - |
hepatocyte | - |
Homo sapiens | - |
hepatocyte | - |
Mus musculus | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
erythrocyte enzyme activity in acute intermittent porphyria mice (7.3 pM uroporphyrin/mg hemoglobin) does not improve with bone marrow graft from porphyria mice (5.2 pM uroporphyrin/mg hemoglobin), increases to 12.4 pM uroporphyrin/mg hemoglobin in mice grafted with bone marrow from wild type, wild type has an activity of 16.9 pM uroporphyrin/mg hemoglobin, erythrocyte enzyme deficiency is not associated with acute porphyria, 37°C, phosphate buffered saline | Mus musculus |
additional information | - |
hepatic enzyme activity in untreated acute intermittent porphyria mice (2.2 pM uroporphyrin/mg hemoglobin) does not increase with control plasmid (2.1 pM uroporphyrin/mg hemoglobin) but increases upon treatment with a therapeutic plasmid containing the human wild type enzyme (4.7 pM uroporphyrin/mg hemoglobin), the wild type shows 10 pM uroporphyrin/mg hemoglobin activity, hepatic enzyme deficiency is associated with acute porphyria, 37°C, phosphate buffered saline | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
4 porphobilinogen + H2O | - |
Mus musculus | hydroxymethylbilane + 4 NH3 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
hepatic porphobilinogen deaminase | - |
Homo sapiens |
hepatic porphobilinogen deaminase | - |
Mus musculus |
human non-erythropoietic PBGD isoform | - |
Homo sapiens |
PBGD | - |
Homo sapiens |
PBGD | - |
Mus musculus |
Organism | Comment | Expression |
---|---|---|
Homo sapiens | transfer of therapeutic plasmid with human enzyme into hepatocytes | up |
General Information | Comment | Organism |
---|---|---|
malfunction | enzyme deficiency results in overproduction of porphyrin precursors in acute intermittent porphyria | Homo sapiens |
malfunction | enzyme deficiency results in overproduction of porphyrin precursors in acute intermittent porphyria | Mus musculus |