EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
4.2.1.75 | L237P | the mutation is associated with congenital erythropoietic porphyria | Homo sapiens |
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 | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
4.2.1.75 | Homo sapiens | P10746 | - |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
4.2.1.75 | lymphocyte | - |
Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
4.2.1.75 | hydroxymethylbilane | - |
Homo sapiens | uroporphyrinogen III + H2O | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
4.2.1.75 | Uroporphyrinogen III cosynthase | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
4.2.1.75 | malfunction | congenital erythropoietic porphyria is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase | Homo sapiens |