Cloned (Comment) | Organism |
---|---|
gene PPOX, genetic analysis of variegate porphyria, VP, an acute hepatic porphyria, in Italy | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
I283N | naturally occurring mutation involved in pathology of variegate porphyria | Homo sapiens |
additional information | identification of 9 mutation, including nonsense and deletion mutations, in the enzyme-encoding gene PPOX in italian population, mutations are associated with variegate porphyria, VP | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | mutations of enzyme-encoding gene PPOX are involved in variegate porphyria, an acute hepatic porphyria, which is characterized by skin lesions and acute neuropsychatric/cisceral attacks due to enzyme deficiency | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | mutations of enzyme-encoding gene PPOX are involved in variegate porphyria, an acute hepatic porphyria, which is characterized by skin lesions and acute neuropsychatric/cisceral attacks due to enzyme deficiency | Homo sapiens | ? | - |
? |