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  • Human SETBP1 wild-type allele is located in the vicinity of 18q21.1 and is approximately 388 kb in length. This allele, which encodes SET-binding protein, may play a role in the regulation of protein SET activity. Mutation of the gene is associated with Schinzel-Giedion midface retraction syndrome. A chromosomal translocation, t(11;18)(p15;q12), involving this gene and the NUP98 gene is involved in T-cell acute lymphoblastic leukemia.
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