Literature summary for 2.5.1.61 extracted from

Poblete-Gutierrez, P.; Wiederholt, T.; Martinez-Mir, A.; Merk, H.F.; Connor, J.M.; Christiano, A.M.; Frank, J.
Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene (2006), Physiol. Res., 55 Suppl 2, S137-S144.

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Cloned(Commentary)

Cloned (Comment)	Organism
localization of the porphobilinogen deaminase gene on chromosome 11q23.3	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R149X	identification of a nonsense mutation in the PBGD gene on chromosome 11q23.3, which harbors the mutations causing acute intermittent porphyria, as the underlying genetic defect in Chester porphyria, phenotype, overview	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 chester porphyria, existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultaneously, overview	hydroxymethylbilane + 4 NH3	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P08397	-	-

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 chester porphyria, existence of dual porphyrias with two enzymes of heme biosynthesis being deficient simultaneously, overview	Homo sapiens	hydroxymethylbilane + 4 NH3	-	?

Synonyms

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

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Release 2023.1 (January 2023)