This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COX20-20-RE | 20 (40 μL) | 200 μL |  |
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| COX20-20-OR | 20 (40 μL) | 200 μL |  |
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| COX20-20-GO | 20 (40 μL) | 200 μL |  |
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| COX20-20-GR | 20 (40 μL) | 200 μL |  |
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| COX20-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Symbol : COX20
Gene Name : COX20, cytochrome c oxidase assembly factor
Chromosome : CHR 1: 244,835,305-244,845,062
Locus : 1q44
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