RUNX1

RUNX1, or Runt-related transcription factor 1, also known as AML1, CBFA2, or Runt-related transcription factor 1, is a transcription factor encoded by a gene located at the 21q22.3 position on human chromosomes and is a member of the RUNX transcription factor family. The mechanism of action of RUNX1 involves DNA binding and the formation of heterodimers, where the RUNX1 protein contains a Runt homology domain (RHD) that mediates the formation of heterodimers with CBFβ and promotes DNA binding, thereby regulating the expression of multiple genes.
RUNX1 is crucial for maintaining normal hematopoiesis and is involved in various biological processes such as cell differentiation, proliferation, cell cycle, DNA repair, and apoptosis. Mutations in the RUNX1 gene can be found in various hematological tumors, particularly at a higher frequency in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), and they indicate a poor prognosis for patients. Abnormal expression or loss of function of RUNX1 is associated with the development and progression of tumors, making it one of the key molecules in the study of myeloid tumors.