Recombinant Human 6-phosphofructokinase, muscle type (PFKM)

Uniprot Id

P08237

Target Species

Human

Target Name

PFKM

Target Full Name

ATP-dependent 6-phosphofructokinase, muscle type

Target Function

Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Target Involvement

Glycogen storage disease 7 (GSD7)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Phosphofructokinase type A (PFKA) family, ATP-dependent PFK group I subfamily, Eukaryotic two domain clade "E" sub-subfamily

Target Synonyms

6 Phosphofructokinase Muscle Type; 6-phosphofructokinase; 6-phosphofructokinase muscle type; EC 2.7.1.1; EC 2.7.1.11; GSD7; K6PF_HUMAN; MGC8699; muscle type; PFK; muscle type; PFK-A; PFKA; PFKL; PFKM; PFKP; PFKX; Phosphofructo 1 Kinase Isozyme A; Phosphofructo-1-kinase isozyme A; Phosphofructokinase 1; Phosphofructokinase M; Phosphofructokinase; muscle; Phosphofructokinase; muscle type; Phosphofructokinase; polypeptide X; Phosphofructokinase-M; Phosphohexokinase

Target Background

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.