Cloned (Comment) | Organism |
---|---|
localization of the porphobilinogen deaminase gene on chromosome 11q23.3 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
R149X | identification of a nonsense mutation in the PBGD gene on chromosome 11q23.3, which harbors the mutations causing acute intermittent porphyria, as the underlying genetic defect in Chester porphyria, phenotype, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | Homo sapiens | the enzyme is important in heme biosynthesis, a nonsense mutation in the porphobilinogen deaminase gene causes chester porphyria, existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultaneously, overview | hydroxymethylbilane + 4 NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P08397 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? | |
4 porphobilinogen + H2O | the enzyme is important in heme biosynthesis, a nonsense mutation in the porphobilinogen deaminase gene causes chester porphyria, existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultaneously, overview | Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
PBGD | - |
Homo sapiens |
porphobilinogen deaminase | - |
Homo sapiens |