Description
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. This protein 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