Structural analysis of missense mutations causing isolated sulfite oxidase deficiency
- PMID: 16234925
- DOI: 10.1039/b505789m
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency
Abstract
The physiologically essential oxidation of sulfite to sulfate is catalyzed by the molybdoheme enzyme, sulfite oxidase. Deficiencies of this enzyme in human patients lead to severe neurological symptoms, which usually result in death in early childhood. Up to date eleven missense mutations in the gene encoding sulfite oxidase have been identified from sulfite oxidase deficient patients. The structural characterization of these mutants is now possible after the chicken sulfite oxidase gene has been synthesized chemically and due to the high homology to the human enzyme it provides a good model of human sulfite oxidase. This review focuses on the possible effects of the sulfite oxidase deficiency causing mutations based on our new structures of recombinant chicken sulfite oxidase.
Comment in
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Dalton discussion No. 8. metals: Centres of biological activity.Dalton Trans. 2005 Nov 7;(21):3372-4. doi: 10.1039/b513314a. Epub 2005 Sep 30. Dalton Trans. 2005. PMID: 16234913 No abstract available.
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