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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.
Gene Name: | phosphofructokinase, muscle |
Synonyms: | PFKM, 6-phosphofructo-1-kinase, GSD7, PFK1, PFKA, PFKX, Phosphofructokinase-M, Phosphofructokinase 1, PFK-1, PFK-A, Phosphofructokinase, muscle, Phosphohexokinase |
Target Sequences: | NM_000289 NP_000280.1 P08237 |
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