Reactivities: | Human |
Presku: | AAP61167 |
Size: | 100ug |
Weight: | 85kDa |
Gene: | The peptide is characterized by mass spectroscopy |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | GSD7; MGC8699; PFK-1; PFK1; PFKA; PFKX |