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]
Immunogen
A synthetic peptide corresponding to a sequence within amino acids 50-150 of human Fructose 6 Phosphate Kinase (P08237).
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Application
WB
Storage Class Code
10 - Combustible liquids
WGK
WGK 1
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