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  • Human KNL1 wild-type allele is located in the vicinity of 15q15.1 and is approximately 70 kb in length. This allele, which encodes kinetochore scaffold 1 protein, plays a role in both signaling in mitosis and chromosome alignment. The gene is involved in a translocation t(11;15)(q23;q14) with the KMT2A (MLL) gene that is associated with acute myeloblastic leukemia. Mutations in this gene are associated with autosomal recessive primary microcephaly 4.
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