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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.
Gene Name: | core-binding factor, runt domain, alpha subunit 2; translocated to, 2 |
Synonyms: | CBFA2T2, Brain mtgr1 mrna, partial 5', EHT, ETO homolog on chromosome 20, MTGR1, p85, MTG8-like protein, MTG8-related protein 1, Translocated to, 2, Protein CBFA2T2, ZMYND3 |
Target Sequences: | NM_005093 NP_005084.1 O43439 |
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