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  • Human ASPSCR1 wild-type allele is located in the vicinity of 17q25 and is approximately 40 kb in length. This allele, which encodes tether containing UBX domain for GLUT4 protein, plays a role in the regulation of insulin-mediated glucose transport. A chromosomal translocation t(X;17)(p11;q25) fuses the gene to the TFE3 gene and is associated with alveolar soft part sarcomas.
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