Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PFKM-20-RE | 20 (40 μL) | 200 μL |  |
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| PFKM-20-OR | 20 (40 μL) | 200 μL |  |
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| PFKM-20-GO | 20 (40 μL) | 200 μL |  |
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| PFKM-20-GR | 20 (40 μL) | 200 μL |  |
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| PFKM-20-AQ | 20 (40 μL) | 200 μL |  |
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Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
Gene Symbol : PFKM
Gene Name : Phosphofructokinase, muscle
Chromosome : CHR 12: 481,052,77-481,464,03
Locus : 12q13.11
Alt. Genes : RASA4
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