Biology:Uroporphyrinogen III synthase
| Uroporphyrinogen III synthase | |
|---|---|
| Identifiers | |
| Symbol | UROS |
| NCBI gene | 7390 |
| HGNC | 12592 |
| OMIM | 606938 |
| RefSeq | NM_000375 |
| UniProt | P10746 |
| Other data | |
| EC number | 4.2.1.75 |
| Locus | Chr. 10 q25.2-26.3 |
| Uroporphyrinogen-III synthase HemD | |||||||||
|---|---|---|---|---|---|---|---|---|---|
 crystal structure of uroporphyrinogen iii synthase from an extremely thermophilic bacterium thermus thermophilus hb8 (wild type, native, form-2 crystal) | |||||||||
| Identifiers | |||||||||
| Symbol | HEM4 | ||||||||
| Pfam | PF02602 | ||||||||
| InterPro | IPR003754 | ||||||||
| SCOP2 | 1jr2 / SCOPe / SUPFAM | ||||||||
| |||||||||
Uroporphyrinogen III synthase (EC 4.2.1.75) is an enzyme involved in the metabolism of the cyclic tetrapyrrole compound porphyrin. It is involved in the conversion of hydroxymethylbilane into uroporphyrinogen III. This enzyme catalyses the inversion of the final pyrrole unit (ring D) of the linear tetrapyrrole molecule, linking it to the first pyrrole unit (ring A), thereby generating a large macrocyclic structure, uroporphyrinogen III.[1] The enzyme folds into two alpha/beta domains connected by a beta-ladder, the active site being located between the two domains.[2]
Function
The enzyme catalyses the cyclisation reaction of hydroxymethylbilane into uroporphyrinogen III via a spiro intermediate which allows one of the pyrrole rings to convert its initial acetate to propionate configuration into a propionate-acetate one.[3][4]
- REDIRECT Template:Chemical reaction
Pathology
A deficiency is associated with Gunther's disease, also known as congenital erythropoietic porphyria (CEP). This is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase.[5]
References
- ↑ "Biosynthesis of cobalamin (vitamin B12): a bacterial conundrum". Cell. Mol. Life Sci. 57 (13–14): 1880–93. December 2000. doi:10.1007/PL00000670. PMID 11215515.
- ↑ "Crystal structure of human uroporphyrinogen III synthase". EMBO J. 20 (21): 5832–9. November 2001. doi:10.1093/emboj/20.21.5832. PMID 11689424.
- ↑ Battersby, Alan R.; Fookes, Christopher J. R.; Matcham, George W.J.; McDonald, Edward (1980). "Biosynthesis of the pigments of life: formation of the macrocycle". Nature 285 (5759): 17–21. doi:10.1038/285017a0. PMID 6769048. Bibcode: 1980Natur.285...17B.
- ↑ Enzyme 4.2.1.75 at KEGG Pathway Database.
- ↑ "Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria". Blood Cells Mol. Dis. 38 (3): 242–6. 2007. doi:10.1016/j.bcmd.2006.12.001. PMID 17270473.
External links
- Uroporphyrinogen+III+synthase at the US National Library of Medicine Medical Subject Headings (MeSH)
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