Sulfite oxidase
Sulfite oxidase | ||
---|---|---|
Properties of human protein | ||
Mass / length primary structure | 466 amino acids | |
Secondary to quaternary structure | Homodimer | |
Cofactor | Heme , molybdopterin | |
Identifier | ||
Gene name | SUOX | |
External IDs | ||
Enzyme classification | ||
EC, category | 1.8.3.1 , oxidoreductase | |
Response type | Hydroxylation | |
Substrate | Sulfite + H 2 O + O 2 | |
Products | Sulfate + H 2 O 2 | |
Occurrence | ||
Homology family | Xanthine dehydrogenase | |
Parent taxon | Creature | |
Orthologue | ||
human | House mouse | |
Entrez | 6821 | 211389 |
Ensemble | ENSG00000139531 | ENSMUSG00000049858 |
UniProt | P51687 | Q8R086 |
Refseq (mRNA) | NM_000456 | NM_173733 |
Refseq (protein) | NP_000447 | NP_776094 |
Gene locus | Chr 12: 56 - 56.01 Mb | Chr 10: 128.67 - 128.67 Mb |
PubMed search | 6821 |
211389
|
The sulphite is an enzyme , and which, which is found in most living organisms, the reaction of sulfite to sulfate catalyzed. It is localized in the mitochondria of all eukaryotes . A related sulfite oxidase can also be found in many types of bacteria. In mammals , sulfite oxidase occurs primarily in the liver, kidneys, spleen, lungs, brain and heart.
function
70–95% of the sulfite ingested normally ends up in the bloodstream. There it is oxidized to sulphate by sulphite oxidase and the electrons are transported via cytochrome c ( electron transport chain ) with the aim of obtaining ATP:
The sulfates formed are excreted in the urine.
Sulphite oxidase deficiency
Sulphite oxidase deficiency leads to therapy-resistant newborn seizures (epilepsy) and severe encephalopathy. The cause of a deficiency is either an isolated enzyme defect or a molybdenum cofactor deficiency, whereby the clinical pictures cannot be distinguished from one another.
- Isolated enzyme defect :
The oxidation of sulfite to sulfate is disturbed, which results in an increase in the sulfite concentration in all body fluids.
- Molybdenum Cofactor Deficiency ( see Molybdenum Cofactor Deficiency ):
The synthesis of the molybdenum cofactor or molybdopterin is disturbed, so that the activity of the enzymes sulfite oxidase, xanthine oxidase and aldehyde oxidase is restricted. Molybdate supplementation is a possible therapy.
Individual evidence
- ^ Roche Lexicon Medicine, 5th, Urban and Fischer edition , Munich 2003.
- ↑ Fröscher, Vasselle, Hufnagel: Die Epilepsien Schattauer, Stuttgart 2004.
- ^ Witkowski, Prokop: "Lexicon of Syndromes and Malformations, 7th Edition" Springer, Berlin - Heidelberg 2003.
- ↑ OrphaNet: Encephalopathy due to sulphite oxidase deficiency.