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Protein CBFA2T2 is a protein that in humans is encoded by the
CBFA2T2 gene.In acute myeloid leukemia, especially in the M2
subtype, the t(8;21)(q22;q22) translocation is one of the most
frequent karyotypic abnormalities. The translocation produces a
chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene
fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric
protein is thought to associate with the nuclear
corepressor/histone deacetylase complex to block hematopoietic
differentiation. The protein encoded by this gene binds to the
AML1-MTG8 complex and may be important in promoting leukemogenesis.
Several transcript variants are thought to exist for this gene, but
the full-length natures of only three have been described.
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