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Literature summary for 2.5.1.61 extracted from
- Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria (2010), J. Hepatol., 52, 417-424.
Application
| 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(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| pTRE-EalAAT-hPBGD-WPRE plasmid from pTRE2 vector expressed in mice hepatocytes | Homo sapiens |
Protein Variants
| 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/ Products (Substrates)
| 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
| 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 (Commentary)
| Purification (Comment) | Organism |
|---|---|
| blood samples are washed in phosphate buffered saline, liver rinsed in phosphate buffered saline | Homo sapiens |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| erythrocyte | - |
Homo sapiens | - |
| erythrocyte | - |
Mus musculus | - |
| hepatocyte | - |
Homo sapiens | - |
| hepatocyte | - |
Mus musculus | - |
Specific Activity [micromol/min/mg]
| 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 and Products (Substrate)
| 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
| 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 |
Expression
| Organism | Comment | Expression |
|---|---|---|
| Homo sapiens | transfer of therapeutic plasmid with human enzyme into hepatocytes | up |
General Information
| 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 |
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