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Porphobilinogen synthase
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| Identifiers | |
| Symbol | ALAD |
| Entrez | 210 |
| HUGO | 395 |
| OMIM | 125270 |
| RefSeq | NM_001003945 |
| UniProt | P13716 |
| Other data | |
| EC number | 4.2.1.24 |
| Locus | Chr. 9 q32 |
Porphobilinogen synthase (or ALA dehydratase, or Aminolevulinate dehydratase) synthesizes porphobilinogen through the asymmetric condensation of two molecules of
It is involved in the second step of the metabolism of porphyrin.
Clinical significance
Porphobilinogen synthase deficiency is a rare cause of porphyria.[1]
Lead poisoning works on the cellular level by binding to this enzyme, rendering it useless.
References
- ^ Jaffe EK, Stith L (February 2007). "ALAD porphyria is a conformational disease". Am. J. Hum. Genet. 80 (2): 329–37. doi:. PMID 17236137.
External links
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