Literature summary extracted from
von und zu Fraunberg, M.; Timonen, K.; Mustajoki, P.; Kauppinen, R.
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients (2002), Eur. J. Hum. Genet., 10, 649-657.
Cloned(Commentary)
EC Number |
Cloned (Comment) |
Organism |
---|
1.3.3.4 |
DNA and amino acid sequence determination and analysis, expression of wild-type and mutant enzymes in Escherichia coli and as GFP-fusion proteins in COS-1 cells |
Homo sapiens |
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
1.3.3.4 |
I12T |
naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, highly reduced activity |
Homo sapiens |
1.3.3.4 |
L401F |
naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, inactive mutant |
Homo sapiens |
1.3.3.4 |
additional information |
construction of frameshift, deletion and insertion mutants, construction of N-terminally truncated mutants, determination of subcellular localization in expressing COS-1 cells, genotype-phenotype analysis of naturally occurring mutations in a finnish variegate porphyria patients, overview |
Homo sapiens |
1.3.3.4 |
R152C |
naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, highly reduced activity |
Homo sapiens |
Localization
EC Number |
Localization |
Comment |
Organism |
GeneOntology No. |
Textmining |
---|
1.3.3.4 |
mitochondrial inner membrane |
analysis of mitochondrial targeting sequences of wild-type and mutant enzymes, overview |
Homo sapiens |
5743 |
- |
Natural Substrates/ Products (Substrates)
EC Number |
Natural Substrates |
Organism |
Comment (Nat. Sub.) |
Natural Products |
Comment (Nat. Pro.) |
Rev. |
Reac. |
---|
1.3.3.4 |
protoporphyrinogen-IX + 3 O2 |
Homo sapiens |
the penultimate step in the heme biosynthesis, enzyme deficiency causes variegate porphyria |
protoporphyrin-IX + 3 H2O2 |
- |
? |
|
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
1.3.3.4 |
Homo sapiens |
P50336 |
healthy persons and finnish variegate porphyria patients |
- |
Posttranslational Modification
EC Number |
Posttranslational Modification |
Comment |
Organism |
---|
1.3.3.4 |
additional information |
analysis of mitochondrial targeting sequences of wild-type and mutant enzymes, overview |
Homo sapiens |
Substrates and Products (Substrate)
EC Number |
Substrates |
Comment Substrates |
Organism |
Products |
Comment (Products) |
Rev. |
Reac. |
---|
1.3.3.4 |
protoporphyrinogen-IX + 3 O2 |
- |
Homo sapiens |
protoporphyrin-IX + 3 H2O2 |
- |
? |
|
1.3.3.4 |
protoporphyrinogen-IX + 3 O2 |
the penultimate step in the heme biosynthesis, enzyme deficiency causes variegate porphyria |
Homo sapiens |
protoporphyrin-IX + 3 H2O2 |
- |
? |
|
Synonyms
EC Number |
Synonyms |
Comment |
Organism |
---|
1.3.3.4 |
PPOX |
- |
Homo sapiens |
Cofactor
EC Number |
Cofactor |
Comment |
Organism |
Structure |
---|
1.3.3.4 |
FAD |
- |
Homo sapiens |
|