Literature summary for 1.3.3.4 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.

Search for more literature for 1.3.3.4

Cloned(Commentary)

Cloned (Comment)	Organism
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

Protein Variants	Comment	Organism
I12T	naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, highly reduced activity	Homo sapiens
L401F	naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, inactive mutant	Homo sapiens
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
R152C	naturally occurring mutation in a finnish variegate porphyria patient, genotype-phenotype analysis, highly reduced activity	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrial inner membrane	analysis of mitochondrial targeting sequences of wild-type and mutant enzymes, overview	Homo sapiens	5743	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
protoporphyrinogen-IX + 3 O2	Homo sapiens	the penultimate step in the heme biosynthesis, enzyme deficiency causes variegate porphyria	protoporphyrin-IX + 3 H2O2	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P50336	healthy persons and finnish variegate porphyria patients	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
additional information	analysis of mitochondrial targeting sequences of wild-type and mutant enzymes, overview	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
protoporphyrinogen-IX + 3 O2	-	Homo sapiens	protoporphyrin-IX + 3 H2O2	-	?
protoporphyrinogen-IX + 3 O2	the penultimate step in the heme biosynthesis, enzyme deficiency causes variegate porphyria	Homo sapiens	protoporphyrin-IX + 3 H2O2	-	?

Synonyms

Synonyms	Comment	Organism
PPOX	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
FAD	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)