Cloned (Comment) | Organism |
---|---|
wild-type enzyme and mutants causing porphyria cutanea tarda, expression in Escherichia coli BL-21 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A80S | less than 12% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein | Homo sapiens |
Q206X | inactive mutant, Q38R-glutathione S-transferase fusion protein | Homo sapiens |
Q38R | less than 0.2% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein | Homo sapiens |
T160I | 3.4% of the specific activity of wild-type enzyme, Q38R-glutathione S-transferase fusion protein | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Danish patients with familial porphyria cutanea tarda | - |
Purification (Comment) | Organism |
---|---|
wild-type and mutant enzymes | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
5-COOH-porphyrinogen I | - |
Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
UroD | - |
Homo sapiens |