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Gene Review

MBNL2  -  muscleblind-like splicing regulator 2

Homo sapiens

Synonyms: MBLL, MBLL39, MLP1, Muscleblind-like protein 1, Muscleblind-like protein 2, ...
 
 
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High impact information on MBNL2

  • The splicing defect induced by expanded CUG repeats in mature muscle fibers is closely reproduced by deficiency of MBNL1 but not by deficiency of MBNL2 [1].
  • MBNL2, on the other hand, participates in a new RNA-dependent protein localization mechanism involving recruitment of integrin alpha3 protein to focal adhesions [2].

References

  1. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Lin, X., Miller, J.W., Mankodi, A., Kanadia, R.N., Yuan, Y., Moxley, R.T., Swanson, M.S., Thornton, C.A. Hum. Mol. Genet. (2006) [Pubmed]
  2. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Pascual, M., Vicente, M., Monferrer, L., Artero, R. Differentiation (2006) [Pubmed]
 
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