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MSC Gene definition: This gene is involved in the repression of transcription. It may also play a role in the regulation of B-cell differentiation.
Musculin definition: The predicted 218-amino acid protein contains a bHLH motif, a putative nuclear localization signal, a glycine-rich region, and a stretch of acidic residues. MSC is capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro, and forms heterodimers with E2A proteins in vivo. MSC contains a transcriptional repression domain and is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. MSC is a downstream target of the B-cell receptor signal transduction pathway. Mice engineered to lack the protein lack muscle structures derived from the first brachial arch. (from LocusLink and OMIM)
MSC wt Allele definition: Human MSC wild-type allele is located in the vicinity of 8q21 and is approximately 3 kb in length. This allele, which encodes musculin protein, is involve in both the modulation of transcription by RNA polymerase II and antigen-dependent differentiation in B cells.
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