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Gene Review

CKM  -  creatine kinase, muscle

Homo sapiens

Synonyms: CKMM, Creatine kinase M chain, Creatine kinase M-type, M-CK
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Disease relevance of CKM


Psychiatry related information on CKM

  • CONCLUSION: The present results provide further support for the notion that the CKMM gene, or some gene in close linkage disequilibrium with it, may contribute to individual differences in the VO2max response to endurance training [6].

High impact information on CKM

  • Wild-type p53 protein was shown to bind specifically to DNA sequences within SV40 (Bargonetti et al. 1991), the human ribosomal gene cluster (RGC) (Kern et al. 1991a), and the murine muscle creatine kinase gene (MCK) (Zambetti et al. 1992) [7].
  • Myogenin translated in vitro does not exhibit detectable DNA binding activity; however, when dimerized with the ubiquitous enhancer-binding factor E12, it acquires high affinity for an element in the core of the muscle creatine kinase (MCK) enhancer that is conserved among many muscle-specific genes [8].
  • Results were combined with data from CHEF and field inversion-gel-electrophoresis separation of large-sized DNA restriction fragments to establish a map localizing both DNA-repair genes and the CKMM gene within the same 250 kb of DNA, the order being cen-CKMM-ERCC2-ERCC1-ter, with APOC2 being at more than 260 kb proximal to CKMM [9].
  • Transcriptional start sites of the CKMM and DNA-repair genes are all on the telomeric side of the genes [9].
  • The region of human chromosome 19 which includes the myotonic dystrophy locus (DM) has recently been redefined by the tight linkage between it and the gene for muscle-specific creatine kinase (CKMM), which lies just proximal to DM [10].

Chemical compound and disease context of CKM


Biological context of CKM

  • The human chromosome 19 synteny of ERCC2 and CKM thus appears to be conserved in Xiphophorus, while other genes located nearby on human chromosome 19 are in a separate linkage group in this fish [12].
  • Thus the earlier assignment of the gene coding for the CKBB isozyme to chromosome 14 was confirmed by molecular means, as was the provisional assignment of CKMM to the long arm of chromosome 19 [13].
  • By using a dog heart MCK cDNA-derived probe, the 7.0-kb EcoRI fragment from one cross-hybridizing genomic clone was isolated and its complete nucleotide sequence determined [14].
  • This indicates that the loss of cytoplasm and the commencement of M-CK isoform synthesis are related events during the last phase of spermatogenesis, also that the incidence of spermatozoa with incomplete cellular maturation is higher in oligospermic specimens [15].
  • In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC2 and CKM [16].

Anatomical context of CKM

  • Probes for the 3'-noncoding sequences of human CKBB and CKMM hybridized concordantly only to DNAs from somatic cell hybrids containing chromosomes 14 and 19, respectively [13].
  • PURPOSE: This study examined 12 wk of creatine (Cr) supplementation and heavy resistance training on skeletal muscle creatine kinase (M-CK) mRNA expression and the mRNA and protein expression of the myogenic regulatory factors Myo-D, myogenin, MFR-4, and Myf5 [17].
  • While muscle CK (CKM) is expressed almost exclusively in adult skeletal and cardiac muscle, brain CK (CKB) expression is more widespread and is highest in brain glial cells [18].
  • An amplicon vector, HyMD, containing the full-length mouse dystrophin cDNA and its muscle creatine kinase (MCK) promoter-enhancer, with a total size of 26 kb, was constructed and used to transduce mdx mouse myotubes [19].
  • The M-CK isoform was plasma membrane associated and predominately localized to the apical surface [20].

Associations of CKM with chemical compounds

  • Statistically significant evidence for linkage was found only for ERCC2L1 and CKM (muscle creatine kinase), with a total of 41 parents and 2 recombinants (4.7% recombination, chi 2 = 35.37, P less than 0.001); no evidence for linkage to GPI and PEPD in linkage group IV was detected [12].
  • Thus, the functional efficacy of bound MM-CK to regulate adenine nucleotide turnover within the myofibrillar compartment seems to be specific for muscles expressing M-CK as an integral part of the sarcomere [21].
  • A novel NcoI polymorphism has been detected in the 3' untranslated region of the creatinine kinase (CKM) gene [22].
  • Tight linkage was also demonstrated for CKMM and the gene for apolipoprotein C2 (ApoC2) [23].

Regulatory relationships of CKM


Other interactions of CKM

  • In the present work, we examined whether in spermatozoa, similar to muscle, there is a change in the synthesis of B-CK and M-CK isoforms during cellular differentiation [15].
  • CONCLUSION: When combined with heavy resistance training, Cr supplementation increases M-CK mRNA expression, likely due to concomitant increases in the expression of myogenin and MRF-4 [17].
  • A novel polymorphic DNA marker, pEO.8, has been isolated from a chromosome 19 ERCC1-containing cosmid that maps to a 300-kb NotI fragment encompassing both CKM and ERCC1 [1].
  • Linkage studies in DM families using RFLPs as polymorphic markers refined the mapping position to 19q13.1-13.2 distal to the BCL3, apoCII, CKM and ERCCI genes [24].
  • Four of the clones from chromosome 19 map distal to CKM and two of these clones (D19S62 and D19S63) are closely linked to DM [16].

Analytical, diagnostic and therapeutic context of CKM

  • The cardiac CKB, but not CKM mRNA level, was twofold higher using the quantitative PCR method [25].
  • Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis [26].
  • However, by immunoblotting, non-denaturing gel electrophoresis and immunohistochemistry, the presence of the M-CK isoform of creatine kinase was also detected [20].
  • Here we demonstrate, by filter binding and gel mobility-shift assays, that wild-type p53 binds with similar affinities to MCK and RGC sites but less tightly to the SV40 site [7].
  • Blot analysis of total cell RNA from differentiating myogenic cell cultures showed accumulation of M-CK mRNA in cultures older than 42 hr but not in young little-differentiated cultures [27].


  1. Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy. Shutler, G., MacKenzie, A.E., Brunner, H., Wieringa, B., de Jong, P., Lohman, F.P., Leblond, S., Bailly, J., Korneluk, R.G. Genomics (1991) [Pubmed]
  2. Dynamics of creatine kinase shuttle enzymes in the human heart. Sylvén, C., Lin, L., Kallner, A., Sotonyi, P., Somogyi, E., Jansson, E. Eur. J. Clin. Invest. (1991) [Pubmed]
  3. Efficient muscle-specific transgene expression after adenovirus-mediated gene transfer in mice using a 1.35 kb muscle creatine kinase promoter/enhancer. Larochelle, N., Lochmüller, H., Zhao, J., Jani, A., Hallauer, P., Hastings, K.E., Massie, B., Prescott, S., Petrof, B.J., Karpati, G., Nalbantoglu, J. Gene Ther. (1997) [Pubmed]
  4. Creatine kinase activity and isoenzymes in lung, colon and liver carcinomas. Joseph, J., Cardesa, A., Carreras, J. Br. J. Cancer (1997) [Pubmed]
  5. Quantification of creatinine kinetic parameters in patients with acute renal failure. Clark, W.R., Mueller, B.A., Kraus, M.A., Macias, W.L. Kidney Int. (1998) [Pubmed]
  6. Linkage between a muscle-specific CK gene marker and VO2max in the HERITAGE Family Study. Rivera, M.A., Pérusse, L., Simoneau, J.A., Gagnon, J., Dionne, F.T., Leon, A.S., Skinner, J.S., Wilmore, J.H., Province, M., Rao, D.C., Bouchard, C. Medicine and science in sports and exercise. (1999) [Pubmed]
  7. Site-specific binding of wild-type p53 to cellular DNA is inhibited by SV40 T antigen and mutant p53. Bargonetti, J., Reynisdóttir, I., Friedman, P.N., Prives, C. Genes Dev. (1992) [Pubmed]
  8. Myogenin resides in the nucleus and acquires high affinity for a conserved enhancer element on heterodimerization. Brennan, T.J., Olson, E.N. Genes Dev. (1990) [Pubmed]
  9. A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Smeets, H., Bachinski, L., Coerwinkel, M., Schepens, J., Hoeijmakers, J., van Duin, M., Grzeschik, K.H., Weber, C.A., de Jong, P., Siciliano, M.J. Am. J. Hum. Genet. (1990) [Pubmed]
  10. A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Johnson, K., Shelbourne, P., Davies, J., Buxton, J., Nimmo, E., Siciliano, M.J., Bachinski, L.L., Anvret, M., Harley, H., Rundle, S. Am. J. Hum. Genet. (1990) [Pubmed]
  11. Immunohistochemical study of childhood rhabdomyosarcomas and related neoplasms. Results of an Intergroup Rhabdomyosarcoma study project. Parham, D.M., Webber, B., Holt, H., Williams, W.K., Maurer, H. Cancer (1991) [Pubmed]
  12. Linkage assignment of a DNA sequence (ERCC2L1) homologous to a human DNA repair gene in Xiphophorus fishes: implications for the evolutionary derivation of human chromosome 19. Walter, R.B., Harless, J., Svensson, R.T., Kallman, K.D., Morizot, D.C., Nairn, R.S. Genomics (1991) [Pubmed]
  13. Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair. Stallings, R.L., Olson, E., Strauss, A.W., Thompson, L.H., Bachinski, L.L., Siciliano, M.J. Am. J. Hum. Genet. (1988) [Pubmed]
  14. Isolation and characterization of the gene and cDNA encoding human mitochondrial creatine kinase. Haas, R.C., Korenfeld, C., Zhang, Z.F., Perryman, B., Roman, D., Strauss, A.W. J. Biol. Chem. (1989) [Pubmed]
  15. Spermatogenesis-related change in the synthesis of the creatine kinase B-type and M-type isoforms in human spermatozoa. Huszar, G., Vigue, L. Mol. Reprod. Dev. (1990) [Pubmed]
  16. Identification of new DNA markers close to the myotonic dystrophy locus. Brook, J.D., Harley, H.G., Walsh, K.V., Rundle, S.A., Siciliano, M.J., Harper, P.S., Shaw, D.J. J. Med. Genet. (1991) [Pubmed]
  17. Effects of oral creatine and resistance training on myogenic regulatory factor expression. Willoughby, D.S., Rosene, J.M. Medicine and science in sports and exercise. (2003) [Pubmed]
  18. Mouse p53 represses the rat brain creatine kinase gene but activates the rat muscle creatine kinase gene. Zhao, J., Schmieg, F.I., Simmons, D.T., Molloy, G.R. Mol. Cell. Biol. (1994) [Pubmed]
  19. Herpes simplex virus type 1 amplicon vector-mediated gene transfer to muscle. Wang, Y., Mukherjee, S., Fraefel, C., Breakefield, X.O., Allen, P.D. Hum. Gene Ther. (2002) [Pubmed]
  20. Creatine kinase in human retinal pigment epithelium. Kennedy, B.G., Haley, B.E., Mangini, N.J. Exp. Eye Res. (2000) [Pubmed]
  21. Functional coupling of creatine kinases in muscles: species and tissue specificity. Ventura-Clapier, R., Kuznetsov, A., Veksler, V., Boehm, E., Anflous, K. Mol. Cell. Biochem. (1998) [Pubmed]
  22. A novel NcoI polymorphism creates a fifth haplotype in the 3' untranslated region of CKM. Differ, A.M., Bobrow, M., Mathew, C.G. Hum. Genet. (1992) [Pubmed]
  23. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Brunner, H.G., Korneluk, R.G., Coerwinkel-Driessen, M., MacKenzie, A., Smeets, H., Lambermon, H.M., van Oost, B.A., Wieringa, B., Ropers, H.H. Hum. Genet. (1989) [Pubmed]
  24. Myotonic dystrophy: molecular analysis of Israeli patients. Abeliovich, D., Lerer, I., Pashut-Lavon, I., Cohen, T. Biomed. Pharmacother. (1994) [Pubmed]
  25. Improved quantification with validation of multiple mRNA species by polymerase chain reaction: application to human myocardial creatine kinase M and B. Ma, T.S., Brink, P.A., Perryman, B., Roberts, R. Cardiovasc. Res. (1994) [Pubmed]
  26. Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. Yamaoka, L.H., Pericak-Vance, M.A., Speer, M.C., Gaskell, P.C., Stajich, J., Haynes, C., Hung, W.Y., Laberge, C., Thibault, M.C., Mathieu, J. Neurology (1990) [Pubmed]
  27. Molecular cloning and expression during myogenesis of sequences coding for M-creatine kinase. Rosenberg, U.B., Kunz, G., Frischauf, A., Lehrach, H., Mähr, R., Eppenberger, H.M., Perriard, J.C. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
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