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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.
, 6-phosphofructokinase, muscle type
, phosphofructo-1-kinase isozyme A
, phosphofructokinase 1
, phosphofructokinase, polypeptide X
, phosphofructokinase 4
, phosphofructokinase-1 A isozyme
, phosphofructokinase-M (connecting peptide)
, 6-phosphofructokinase muscle type
, muscle type phosphofructokinase
, muscle phosphofructokinase
, muscle-type phosphofructokinase
, ATP-dependent 6-phosphofructokinase, muscle type
, phosphofructokinase, muscle S homeolog