This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ETHE1-20-RE | 20 (40 μL) | 200 μL |  |
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| ETHE1-20-OR | 20 (40 μL) | 200 μL |  |
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| ETHE1-20-GO | 20 (40 μL) | 200 μL |  |
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| ETHE1-20-GR | 20 (40 μL) | 200 μL |  |
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| ETHE1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Gene Symbol : ETHE1
Gene Name : ETHE1, persulfide dioxygenase
Chromosome : CHR 19: 435,272,55-435,067,18
Locus : 19q13.31
Alt. Genes : CEBPZ
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