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Gene Review

PFKM  -  phosphofructokinase, muscle

Homo sapiens

Synonyms: 6-phosphofructokinase type A, ATP-PFK, ATP-dependent 6-phosphofructokinase, muscle type, GSD7, PFK-1, ...
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Disease relevance of PFKM


High impact information on PFKM


Chemical compound and disease context of PFKM


Biological context of PFKM


Anatomical context of PFKM


Associations of PFKM with chemical compounds


Other interactions of PFKM


Analytical, diagnostic and therapeutic context of PFKM

  • Using specific immunoprecipitation of M-type phosphofructokinase and assay of immunoprecipitate enzyme activity, it was possible to detect some M-type enzyme in normal blood cells and fibroblasts, although this isoenzyme represents a very small part of total phosphofructokinase [15].
  • Confocal immunofluorescence microscopy was used to study the distribution of phosphofructokinase (PFK) and CAV-1 in the transfected cells [16].
  • Compared to the control group, the mouse in the group treated with the PO extracts by 1 g/d had significantly higher activities of PF, PFK, LDH and higher levels of ATP in the cortices, especially under the hypoxic environment for 24 hours [24].


  1. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. Howard, T.D., Akots, G., Bowden, D.W. Genomics (1996) [Pubmed]
  2. Characterization of expression of phosphofructokinase isoforms in isolated rat pancreatic islets and purified beta cells and cloning and expression of the rat phosphofructokinase-A isoform. Ma, Z., Ramanadham, S., Kempe, K., Hu, Z., Ladenson, J., Turk, J. Biochim. Biophys. Acta (1996) [Pubmed]
  3. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Vasconcelos, O., Sivakumar, K., Dalakas, M.C., Quezado, M., Nagle, J., Leon-Monzon, M., Dubnick, M., Gajdusek, D.C., Goldfarb, L.G. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  4. The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency. Sabina, R.L., Waldenström, A., Ronquist, G. Haematologica (2006) [Pubmed]
  5. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. Nakajima, H., Kono, N., Yamasaki, T., Hotta, K., Kawachi, M., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S. J. Biol. Chem. (1990) [Pubmed]
  6. Reevaluation of the accepted allosteric mechanism of phosphofructokinase from Bacillus stearothermophilus. Kimmel, J.L., Reinhart, G.D. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  7. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Tsujino, S., Servidei, S., Tonin, P., Shanske, S., Azan, G., DiMauro, S. Am. J. Hum. Genet. (1994) [Pubmed]
  8. Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites. Scherer, P.E., Lisanti, M.P. J. Biol. Chem. (1997) [Pubmed]
  9. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). Raben, N., Sherman, J., Miller, F., Mena, H., Plotz, P. J. Biol. Chem. (1993) [Pubmed]
  10. Myogenic hyperuricemia: what can we learn from metabolic myopathies? Mineo, I., Tarui, S. Muscle Nerve (1995) [Pubmed]
  11. Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Cameron, J.M., Maj, M.C., Levandovskiy, V., Mackay, N., Shelton, G.D., Robinson, B.H. Mol. Genet. Metab. (2007) [Pubmed]
  12. Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes. Nakajima, H., Kono, N., Yamasaki, T., Hamaguchi, T., Hotta, K., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S. Biochem. Biophys. Res. Commun. (1990) [Pubmed]
  13. Isozymes of human phosphofructokinase: biochemical and genetic aspects. Vora, S. Isozymes Curr. Top. Biol. Med. Res. (1983) [Pubmed]
  14. The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK. Levanon, D., Danciger, E., Dafni, N., Bernstein, Y., Elson, A., Moens, W., Brandeis, M., Groner, Y. DNA (1989) [Pubmed]
  15. Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts. Kahn, A., Weil, D., Cottreau, D., Dreyfus, J.C. Ann. Hum. Genet. (1981) [Pubmed]
  16. Overexpression of caveolin-1 results in increased plasma membrane targeting of glycolytic enzymes: the structural basis for a membrane associated metabolic compartment. Raikar, L.S., Vallejo, J., Lloyd, P.G., Hardin, C.D. J. Cell. Biochem. (2006) [Pubmed]
  17. The effect of ammonium, phosphate, potassium, and hypotonicity on stored red cells. Kay, A., Beutler, E. Transfusion (1992) [Pubmed]
  18. Phosphorylating enzymes involved in glucose fermentation of Actinomyces naeslundii. Takahashi, N., Kalfas, S., Yamada, T. J. Bacteriol. (1995) [Pubmed]
  19. Oxidative stress reversibly inactivates myocardial enzymes during cardiac arrest. Sharma, A.B., Sun, J., Howard, L.L., Williams, A.G., Mallet, R.T. Am. J. Physiol. Heart Circ. Physiol. (2007) [Pubmed]
  20. REgulation of glycolysis/fructolysis in buffalo spermatozoa. Gandhi, K.K., Anand, S.R. J. Reprod. Fertil. (1982) [Pubmed]
  21. Mapping of the Na+, K(+)-ATPase subunit alpha 2 (ATP1A2) and muscle phosphofructokinase (PFKM) genes in pig by somatic cell hybrid analysis. Fontanesi, L., Davoli, R., Zijlstra, C., Bosma, A.A., Russo, V. Anim. Genet. (1999) [Pubmed]
  22. Regulatory mechanisms in the interaction between carbohydrate and lipid oxidation during exercise. Spriet, L.L., Watt, M.J. Acta Physiol. Scand. (2003) [Pubmed]
  23. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Aasly, J., van Diggelen, O.P., Boer, A.M., Brønstad, G. Eur. J. Neurol. (2000) [Pubmed]
  24. Protective effect of Portulaca oleracea extracts on hypoxic nerve tissue and its mechanism. Wang, W., Gu, L., Dong, L., Wang, X., Ling, C., Li, M. Asia Pacific journal of clinical nutrition (2007) [Pubmed]
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