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Literature summary for 2.5.1.61 extracted from
- Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs (2004), J. Inherit. Metab. Dis., 27, 625-631.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| cloning and sequencing of naturally occurring mutants G11R and R173Q | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | analysis of naturally occurring mutations causing acute intermittent porphyria, e.g. recurrent mutations G111R and R173Q occurring at CpG motifs from different patients, countries of origin, overview, haplotype analysis, polymorphism analysis, microsatellite marker analysis, oerview | Homo sapiens |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4 porphobilinogen + H2O | Homo sapiens | third reaction step in heme biosynthesis pathway | 1-hydroxymethylbilane + 4 NH3 | - |
? |  |
| additional information | Homo sapiens | recurrent mutations G111R and R173Q occurring at CpG motifs of the enzyme cause acute intermittent porphyria AIP, a disorder of the heme biosynthetic pathway, oerview | ? | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4 porphobilinogen + H2O | third reaction step in heme biosynthesis pathway | Homo sapiens | 1-hydroxymethylbilane + 4 NH3 | - |
? | |
| 4 porphobilinogen + H2O | polymerization of 4 pyrrole molecules to a linear tetrapyrrole | Homo sapiens | 1-hydroxymethylbilane + 4 NH3 | i.e. pre-uroporphyrinogen, highly unstable compound | ? | |
| additional information | recurrent mutations G111R and R173Q occurring at CpG motifs of the enzyme cause acute intermittent porphyria AIP, a disorder of the heme biosynthetic pathway, oerview | Homo sapiens | ? | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| More | formerly EC 4.3.1.8 | Homo sapiens |
| PBG deaminase | - |
Homo sapiens |
| PBGD | - |
Homo sapiens |
| porphobilinogen deaminase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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