Literature summary for 2.5.1.61 extracted from

Brons-Poulsen, J.; Christiansen, L.; Petersen, N.E.; Horder, M.; Kristiansen, K.
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase (2005), Scand. J. Clin. Lab. Invest., 65, 93-105.

Search for more literature for 2.5.1.61

Cloned(Commentary)

Cloned (Comment)	Organism
the enzyme is expressed into a housekeeping or an erythroid form as a result of differential promoter usage and splicing, three pairs of isoallelic forms, expression of two of the isoallelic forms, K210 and E210, with mutations involved in acute intermittent porphyria, AIP, in Escherichia coli as GST fusion proteins	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	mutations involved in acute intermittent porphyria, AIP, lead to an inactivation of the mutant enzyme, the mutations influence the structure and function of the enzyme	Homo sapiens

KM Value [mM]

KM Value [mM]	KM Value Maximum [mM]	Substrate	Comment	Organism	Structure
additional information	-	additional information	no differences in kinetics for the housekeeping and the erythroid enzyme form, overview	Homo sapiens
0.007	-	porphobilinogen	genetic variant isozyme E210	Homo sapiens
0.009	-	porphobilinogen	genetic variant isozyme K210	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
4 porphobilinogen + H2O	Homo sapiens	enzyme defects are involved in acute intermittent porphyria, AIP	hydroxymethylbilane + 4 NH3	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant GST-tagged isoallelic forms K210 and E210 mutants from Escherichia coli to homogeneity	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	enzyme defects are involved in acute intermittent porphyria, AIP	Homo sapiens	hydroxymethylbilane + 4 NH3	-	?

Synonyms

Synonyms	Comment	Organism
PBG-D	-	Homo sapiens
porphobilinogen deaminase	-	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)