This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OTC-20-RE | 20 (40 μL) | 200 μL |  |
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| OTC-20-OR | 20 (40 μL) | 200 μL |  |
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| OTC-20-GO | 20 (40 μL) | 200 μL |  |
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| OTC-20-GR | 20 (40 μL) | 200 μL |  |
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| OTC-20-AQ | 20 (40 μL) | 200 μL |  |
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This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
Gene Symbol : OTC
Gene Name : Ornithine carbamoyltransferase
Chromosome : CHR X: 383,524,82-384,214,49
Locus : Xp11.4
Alt. Genes : ENAM
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