基因名：
RUNX1
产品别名：
AML1； AML1-EVI-1； AMLCR1； CBF2alpha； CBFA2； EVI-1； PEBP2aB； PEBP2alpha； RUNX1； RUNX family transcription factor 1； RUNX family transcription factor 1； runt-related transcription factor 1； AML1-ETO fusion； AML1-ETO fusion protein； AML1-EVI-1 fusion protein； PEA2-alpha B； PEBP2-alpha B； SL3-3 enhancer factor 1 alpha B subunit； SL3/AKV core-binding factor alpha B subunit； acute myeloid leukemia 1 protein； core-binding factor, runt domain, alpha subunit 2； mutant RUNX1； oncogene AML-1； polyomavirus enhancer-binding protein 2 alpha B subunit； runt related transcription factor 1； Runt相关转录因子1(RUNX1)； 急性髓细胞白血病1蛋白； 急性髓细胞白血病1蛋白1/2； 磷酸化急性髓细胞白血病1蛋白；
背景信息：
AML1/Runx1 binds DNA as a monomer and through the Runt domain. DNA binding is increased by heterodimerization with CBFB. Isoform AML1L can neither bind DNA nor heterodimerize and interferes with the transactivation activity of AML1/Runx1. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T cell receptor enhancers, LCK, IL3 and GMCSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. AML1/Runx1 is expressed in a wide variety of tissues and is expressed at the highest levels in thymus, bone marrow and peripheral blood. Defects in AML1/Runx1 are the cause of familial platelet disorder with associated myeloid malignancy, an autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia。
