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Literature summary for 2.5.1.61 extracted from

  • Ulbrichova, D.; Flachsova, E.; Hrdinka, M.; Saligova, J.; Bazar, J.; Raman, C.S.; Martasek, P.
    De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study (2006), Physiol. Res., 55 Suppl 2, S145-S154.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
PBGD gene, DNA and amino acid sequence determination and analysis, expression of GST-tagged wild-type and mutant enzymes in Escherichia coli BL21 (DE3) Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information identification of a mutation in the porphobilinogen deaminase gene in a Slovak acute intermittent porphyria patient, phenotype, the recombinantly expressed mutant enzyme shows 0.18% of wild-type activity, overview Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
42000
-
x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE Homo sapiens
68000
-
x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

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 acute intermittent porphyria, AIP, overview, eight enzymes are involved in the heme synthesis and defects in seven of them cause porphyria, overview hydroxymethylbilane + 4 NH3
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
recombinant GST-tagged wild-type and mutant enzymes from Escherichia coli BL21 (DE3) by glutathione affinity chromatography, the GST-tag is cleaved off Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
nervous system
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
0.000039
-
purified recombinant GST-tagged mutant enzyme Homo sapiens
0.022
-
purified recombinant GST-tagged wild-type enzyme Homo sapiens

Substrates and Products (Substrate)

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 acute intermittent porphyria, AIP, overview, eight enzymes are involved in the heme synthesis and defects in seven of them cause porphyria, overview Homo sapiens hydroxymethylbilane + 4 NH3
-
?

Subunits

Subunits Comment Organism
? x * 68000, GST-tagged recombinant enzyme, SDS-PAGE, x * 42000, detagged recombinant enzyme, SDS-PAGE Homo sapiens
More three-dimensional enzyme structure, computer-based structural modeling, overview Homo sapiens

Synonyms

Synonyms Comment Organism
PBGD
-
Homo sapiens
porphobilinogen deaminase
-
Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
8.2
-
assay at Homo sapiens