{"symbol":"CBFA2T2","synonyms":["MTGR1","ZMYND3","EHT"],"name":"core-binding factor, runt domain, alpha subunit 2; translocated to, 2","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\u0027-region of the RUNX1 (AML1) gene fused to the 3\u0027-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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":9139,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9139","proteins":[{"symbol":"MTG8R_HUMAN","href":"/api/1.0/protein/MTG8R_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}