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Gene Review

Dysf  -  dysferlin

Mus musculus

Synonyms: 2310004N10Rik, AI604795, D6Pas3, Dysferlin, Dystrophy-associated fer-1-like protein, ...
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Disease relevance of Dysf


High impact information on Dysf

  • Membrane repair is therefore an active process in skeletal muscle fibres, and dysferlin has an essential role in this process [2].
  • In normal muscle, membrane patches enriched in dysferlin can be detected in response to sarcolemma injuries [2].
  • Cav3R26Q and other Golgi-associated mutants of both Cav-3 (Cav3P104L) and Cav-1 (Cav1P132L) caused a dramatic redistribution of dysferlin to the Golgi complex [6].
  • Heterologously expressed epitope-tagged dysferlin associates with the plasma membrane in primary fibroblasts and muscle cells [6].
  • Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency [7].

Chemical compound and disease context of Dysf

  • It is the first known example of a C2 domain containing protein involved in a muscular dystrophy, mutations in the gene can be involved in a variable phenotype, and a naturally occurring mouse model for dysferlin deficiency has recently been identified [8].

Biological context of Dysf


Anatomical context of Dysf


Associations of Dysf with chemical compounds

  • We found that C2A, the first C2 domain of dysferlin and myoferlin, bound 50% phosphatidylserine and that phospholipid binding was regulated by calcium concentration [11].
  • Intracellular localization of dysferlin and its association with the dihydropyridine receptor [12].
  • We describe the alteration of dysferlin expression and localization in skeletal muscle from a patient with raised serum creatine kinase (hyperCKaemia), whose reduction of caveolin 3 is caused by a CAV3 P28L mutation [13].

Physical interactions of Dysf

  • These results demonstrated that dysferlin may be involved in the formation of an oligomeric complex with DHPR and caveolin-3 [12].

Other interactions of Dysf


Analytical, diagnostic and therapeutic context of Dysf


  1. Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Bittner, R.E., Anderson, L.V., Burkhardt, E., Bashir, R., Vafiadaki, E., Ivanova, S., Raffelsberger, T., Maerk, I., Höger, H., Jung, M., Karbasiyan, M., Storch, M., Lassmann, H., Moss, J.A., Davison, K., Harrison, R., Bushby, K.M., Reis, A. Nat. Genet. (1999) [Pubmed]
  2. Defective membrane repair in dysferlin-deficient muscular dystrophy. Bansal, D., Miyake, K., Vogel, S.S., Groh, S., Chen, C.C., Williamson, R., McNeil, P.L., Campbell, K.P. Nature (2003) [Pubmed]
  3. Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice. Shaw, C.A., Larochelle, N., Dudley, R.W., Lochmuller, H., Danialou, G., Petrof, B.J., Karpati, G., Holland, P.C., Nalbantoglu, J. Am. J. Pathol. (2006) [Pubmed]
  4. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Davis, D.B., Delmonte, A.J., Ly, C.T., McNally, E.M. Hum. Mol. Genet. (2000) [Pubmed]
  5. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. Han, R., Bansal, D., Miyake, K., Muniz, V.P., Weiss, R.M., McNeil, P.L., Campbell, K.P. J. Clin. Invest. (2007) [Pubmed]
  6. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hernández-Deviez, D.J., Martin, S., Laval, S.H., Lo, H.P., Cooper, S.T., North, K.N., Bushby, K., Parton, R.G. Hum. Mol. Genet. (2006) [Pubmed]
  7. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Ho, M., Post, C.M., Donahue, L.R., Lidov, H.G., Bronson, R.T., Goolsby, H., Watkins, S.C., Cox, G.A., Brown, R.H. Hum. Mol. Genet. (2004) [Pubmed]
  8. Dysferlin and muscular dystrophy. Bushby, K.M. Acta neurologica Belgica. (2000) [Pubmed]
  9. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. Lennon, N.J., Kho, A., Bacskai, B.J., Perlmutter, S.L., Hyman, B.T., Brown, R.H. J. Biol. Chem. (2003) [Pubmed]
  10. Up-regulation of MHC class I expression accompanies but is not required for spontaneous myopathy in dysferlin-deficient SJL/J mice. Kostek, C.A., Dominov, J.A., Miller, J.B. Am. J. Pathol. (2002) [Pubmed]
  11. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. Davis, D.B., Doherty, K.R., Delmonte, A.J., McNally, E.M. J. Biol. Chem. (2002) [Pubmed]
  12. Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Ampong, B.N., Imamura, M., Matsumiya, T., Yoshida, M., Takeda, S. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2005) [Pubmed]
  13. Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Capanni, C., Sabatelli, P., Mattioli, E., Ognibene, A., Columbaro, M., Lattanzi, G., Merlini, L., Minetti, C., Maraldi, N.M., Squarzoni, S. Exp. Mol. Med. (2003) [Pubmed]
  14. Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. Wenzel, K., Zabojszcza, J., Carl, M., Taubert, S., Lass, A., Harris, C.L., Ho, M., Schulz, H., Hummel, O., Hubner, N., Osterziel, K.J., Spuler, S. J. Immunol. (2005) [Pubmed]
  15. The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. von der Hagen, M., Laval, S.H., Cree, L.M., Haldane, F., Pocock, M., Wappler, I., Peters, H., Reitsamer, H.A., Hoger, H., Wiedner, M., Oberndorfer, F., Anderson, L.V., Straub, V., Bittner, R.E., Bushby, K.M. Neuromuscul. Disord. (2005) [Pubmed]
  16. Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice. Leriche-Guérin, K., Anderson, L.V., Wrogemann, K., Roy, B., Goulet, M., Tremblay, J.P. Neuromuscul. Disord. (2002) [Pubmed]
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