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Human MRTFA wild-type allele is located within 22q13.1-q13.2 and is approximately 226 kb in length. This allele, which encodes myocardin-related transcription factor A protein, plays a role in the positive regulation of both smooth muscle cell differentiation and transcription. A chromosomal translocation t(1;22)(p13;q13) with the RBM15 gene is associated with acute megakaryoblastic leukemia.
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