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Phosphofructokinase catalyzes the irreversible conversion of fructose 6 phosphate to fructose 1,6 bisphosphate. Mammalian PFK is a complex isozyme consisting of 3 subunits: muscle (M), liver (L), and platelet (P). Only M type PFK isozyme is expressed in mature muscle, while erythrocytes contain both L and M subunits. Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7), also known as Tarui disease.
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