Entrez 9139 | Ensembl ENSG00000078699 | |
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Aliases CBFA2T2, EHT, MTGR1, ZMYND3, p85, CBFA2/RUNX1 translocation partner 2 External IDs MGI: 1333833 HomoloGene: 3733 GeneCards: CBFA2T2 |
Function
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.
Interactions
References
CBFA2T2 Wikipedia(Text) CC BY-SA