Biochemical Genetics

, Volume 15, Issue 11–12, pp 1133–1142 | Cite as

Nonidentical subunits of human erythrocyte phosphofructokinase

  • Jasminder Kaur
  • Robert B. Layzer


Human erythrocyte and muscle phosphofructokinase (PFK) were purified completely by improved procedures. SDS-acrylamide gel electrophoresis in a discontinuous buffer system revealed two subunits (R and M) of erythrocyte PFK, the slower one (M) corresponding to the single subunit of muscle PFK. The staining intensity ratio R:M of the two bands of erythrocyte PFK was 2:1 or less. This suggests that native erythrocyte PFK contains multiple isoenzymes with different proportions of R and M, some being lost during purification. Nevertheless, isoelectric focusing showed single peaks of erythrocyte PFK (pI 5.0) and muscle PFK (pI 6.6), perhaps because of aggregation of erythrocyte PFK isoenzymes. Erythrocyte PFK from a patient with muscle PFK deficiency had a pI of 4.6 and could not be precipitated by antiserum against muscle PFK, findings compatible with the putative structure R4.

Key words

phosphofructokinase inborn error of metabolism isoenzymes enzyme subunits 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Conway, M. M., and Layzer, R. B. (1970). Blood cell phosphofructokinase in Down's syndrome. Humangenetik 9185.Google Scholar
  2. Davis, B. J. (1964). Disc electrophoresis. II. Method and application to human serum proteins. Ann. N.Y. Acad. Sci. 121404.Google Scholar
  3. Eipper, B. A. (1974). Properties of rat brain tubulin. J. Biol. Chem. 2491407.Google Scholar
  4. Hartman, B. K., and Udenfriend, S. (1969). A method for immediate visualization of proteins in acrylamide gels and its use for preparation of antibodies to enzymes. Anal. Biochem. 30391.Google Scholar
  5. Karadsheh, N., and Uyeda, K. (1976). Structure of human erythrocyte phosphofructokinase Fed. Proc. 351521.Google Scholar
  6. Layzer, R. B. (1971). Enzyme genetics in muscle phosphofructokinase deficiency. In Proceedings of the Second International Congress on Muscle Diseases, Excerpta Medica, Amsterdam, pp. 75–81.Google Scholar
  7. Layzer, R. B. (1975). Phosphofructokinase from human erythrocytes. Meth. Enzymol. 42110.Google Scholar
  8. Layzer, R. B., and Rasmussen, J. (1974). The molecular basis of muscle phosphofructokinase deficiency. Arch. Neurol. 31411.Google Scholar
  9. Layzer, R. B., Rowland, L. P., and Ranney, H. M. (1967). Muscle phosphofructokinase deficiency. Arch. Neurol. 17512.Google Scholar
  10. Layzer, R. B., Rowland, L. P., and Bank, W. J. (1969). Physical and kinetic properties of human phosphofructokinase from skeletal muscle and erythrocytes. J. Biol. Chem. 2443823.Google Scholar
  11. Leonard, K. R., and Walker, I. O. (1972). The self-association of rabbit-muscle phosphofructokinase. Eur. J. Biochem. 26442.Google Scholar
  12. Merz, D. C., Good, R. A., and Litman, G. W. (1972). Segregation of membrane components using isoelectric focusing in polyacrylamide gels. Biochem. Biophys. Res. Commun. 4984.Google Scholar
  13. Pavelich, M. J., and Hammes, G. G. (1972). Aggregation of rabbit muscle phosphofructokinase. Biochemistry 121408.Google Scholar
  14. Renaud, F. L., Rowe, A. J., and Gibbons, I. R. (1968). Some properties of the proteins forming the outer fibers of cilia. J. Cell Biol. 3679.Google Scholar
  15. Tarui, S., Kono, N., and Nasu, T. (1969). Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency. Biochem. Biophys. Res. Commun. 3477.Google Scholar
  16. Ui, N. (1973). Conformational studies on proteins by isoelectric focusing. Ann. N. Y. Acad. Sci. 209198.Google Scholar
  17. Vesterberg, O. (1971). Isoelectric focusing of proteins. Meth. Enzymol. 22389.Google Scholar
  18. Weber, K., and Osborn, M. (1969). The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. J. Biol. Chem. 2444406.Google Scholar

Copyright information

© Plenum Publishing Corporation 1977

Authors and Affiliations

  • Jasminder Kaur
    • 1
  • Robert B. Layzer
    • 1
  1. 1.Department of NeurologyUniversity of California, School of MedicineSan Francisco

Personalised recommendations