This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| COA5-20-RE | 20 (40 μL) | 200 μL |  |
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| COA5-20-OR | 20 (40 μL) | 200 μL |  |
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| COA5-20-GO | 20 (40 μL) | 200 μL |  |
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| COA5-20-GR | 20 (40 μL) | 200 μL |  |
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| COA5-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Gene Symbol : COA5
Gene Name : Cytochrome c oxidase assembly factor 5
Chromosome : CHR 2: 986,085,17-985,993,22
Locus : 2q11.2
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