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  • Human NUP214 wild-type allele is located in the vicinity of 9q34.1 and is approximately 108 kb in length. This allele, which encodes nuclear pore complex protein Nup214, plays a role in the regulation of nucleocytoplasmic transport and receptor-mediated nuclear import. The 3 prime portion of the gene can form a fusion construct with the DEK gene on chromosome 6 in a t(6,9) translocation. The translocation is associated with acute myeloid leukemia and myelodysplastic syndrome.
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