basic FUNCTION
| may play a role in myotonic dystrophy pathophysiology |
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participates in a new RNA-dependent protein localization mechanism involving recruitment of integrin alpha3 protein to focal adhesions |
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involved in the differentiation of muscle inclusion by controlling the splicing patterns of several pre-mRNAs |
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MBNL1, MBNL2, MBNL3 plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete MBNL proteins |
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central and negative regulatory role for MBNL1, MBNL2 proteins in pluripotency |
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depletion of MBNL1 and/or MBNL2 reduced localization of hundreds of transcripts, implicating MBLN1, 2, 3 in localization of mRNAs to neurites |