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Literature summary 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
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | L237P | the mutation is associated with congenital erythropoietic porphyria | Homo sapiens |
| 4.2.1.75 | Q249X | the mutation is associated with congenital erythropoietic porphyria | Homo sapiens |
Natural Substrates/ Products (Substrates)
| EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.1.75 | hydroxymethylbilane | Homo sapiens | - |
uroporphyrinogen III + H2O | - |
? |  |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 4.2.1.75 | Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.1.75 | hydroxymethylbilane | - |
Homo sapiens | uroporphyrinogen III + H2O | - |
? | |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 4.2.1.75 | URO synthase | - |
Homo sapiens |
| 4.2.1.75 | Uroporphyrinogen III synthase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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