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Literature summary for 4.1.1.37 extracted from
- Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT (1999), Hum. Mutat., 14, 222-232.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | malfunction of UROD is associated with porphyria cutanea tarda and hepatoerythropoietic porphyria, denaturing gradient gel electrophoresis technique DGGE assay presents genetic diagnosis method for screening patients from previously uncharacterized families, differential diagnosis between familial and sporadic cases of PCT | Homo sapiens |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
- |
Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| C705A | site-directed mutagenesis | Homo sapiens |
| F229L | site-directed mutagenesis | Homo sapiens |
| M01T | site-directed mutagenesis | Homo sapiens |
| M324T | site-directed mutagenesis | Homo sapiens |
| T20C | site-directed mutagenesis | Homo sapiens |
| T989C | site-directed mutagenesis | Homo sapiens |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| Uroporphyrinogen III | Homo sapiens | fifth step in heme biosynthetic pathway, four sequential decarboxylation reactions | Coproporphyrinogen III + 4 CO2 | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
human | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| Uroporphyrinogen III | - |
Homo sapiens | Coproporphyrinogen III + 4 CO2 | - |
? | |
| Uroporphyrinogen III | fifth step in heme biosynthetic pathway, four sequential decarboxylation reactions | Homo sapiens | Coproporphyrinogen III + 4 CO2 | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| UroD | - |
Homo sapiens |
| uroporphyrinogen decarboxylase | - |
Homo sapiens |
Temperature Stability [°C]
| Temperature Stability Minimum [°C] | Temperature Stability Maximum [°C] | Comment | Organism |
|---|---|---|---|
- |
60 | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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