Description
Product Characteristics: The reagents were evaluated for potency, purity and specificity using most or all of the following techniques: immunoelectrophoresis, cross-immunoelectrophoresis, single radial immunodiffusion (Ouchterlony), block titration, ELISA, immunoblotting and enzyme inhibition.
Target Information: 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]