Fructose 6 Phosphate Kinase ist ein Gen, das durch das Symbol PFKM kodiert wird. Andere Namen sind: ATP-dependent 6-phosphofructokinase, muscle type; ATP-PFK; 6-phosphofructokinase type A; Phosphofructo-1-kinase isozyme A; PFK-A; Phosphohexokinase; PFKM; PFKX. Fructose 6 Phosphate Kinase hat eine Masse von 85.18kDa, eine Aminosäurelänge von 780, und ist an Glycogen storage disease 7 beteiligt.
Wir bieten 9 antikörper gegen Fructose 6 Phosphate Kinase, aufgewachsen in Kaninchen, Maus und Sheep, welche geeignet sind für WB, IHC, ELISA, ICC/IF, IP and Dot mit Proben abgeleitet von Human, Maus, Ratte und Kaninchen.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Glycogen storage disease 7: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Sequenzähnlichkeiten
Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.
Posttranslationale Modifikation
GlcNAcylation decreases enzyme activity.
