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Literature summary for 4.2.1.75 extracted from
- Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria (2009), J. Eur. Acad. Dermatol. Venereol., 23, 470-471.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| L237P | the mutation is associated with congenital erythropoietic porphyria | Homo sapiens |
| Q249X | the mutation is associated with congenital erythropoietic porphyria | Homo sapiens |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| hydroxymethylbilane | Homo sapiens | - |
uroporphyrinogen III + H2O | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| hydroxymethylbilane | - |
Homo sapiens | uroporphyrinogen III + H2O | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| URO synthase | - |
Homo sapiens |
| Uroporphyrinogen III synthase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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