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PFKM
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]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Cardiomyocytes, Muller glia cells, Horizontal cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homo- and heterotetramers (By similarity). Phosphofructokinase (PFK) enzyme functions as a tetramer composed of different combinations of 3 types of subunits, called PFKM (where M stands for Muscle), PFKL (Liver) and PFKP (Platelet). The composition of the PFK tetramer differs according to the tissue type it is present in. In muscles, it is composed of 4 PFKM subunits (also called M4). In the liver, the predominant form is a tetramer of PFKL subunits (L4). In erythrocytes, both PFKM and PFKL subunits randomly tetramerize to form M4, L4 and other combinations (ML3, M2L2, M3L). The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable). Interacts (via C-terminus) with HK1 (via N-terminal spermatogenic cell-specific region) (By similarity).
Molecular function
Allosteric enzyme, Kinase, Transferase
More Types Infomation
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IF, IHC, FC
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- Derivation: Phage display library screening
- Species Reactivity: Mouse, Rat, Human, Pig
- Type: IgG
- Application: WB, ICC/IF, FC
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, ICC, IF
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For Research Use Only. Not For Clinical Use.