The protein encoded by RUNX1 can bind the protein encoded by CBFB to form "Core Binding Factor", a hetero-dimeric transcription factor, which can bind to DNA as a monomer and through the Runt domain within the Runx1 protein. Runx1 protein is essential for hemopoietic stem cell formation and is important for the differentiation of lymphoid, myeloid and megakaryocytic cell lineages (2). The RUNX1 gene is the most frequent target for chromosomal translocation in leukemia (1). Alterations of RUNX1 are typically loss of function or decreased function, and are considered "secondary driver mutations" (disease progression) in sporadic leukemias (2), but germline RUNX1 mutations contribute a lifetime risk of myeloid malignancy of about 44% (2). RUNX1 mutations (loss of function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects and increased inflammation (2).
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The protein encoded by RUNX1 can bind the protein encoded by CBFB to form "Core Binding Factor", a hetero-dimeric transcription factor, which regulates a number of genes responsible for hematopoiesis and osteogenesis (2). Runx1 protein can bind to DNA as a monomer through the Runt domain within the Runx1 protein. The RUNX1 gene is the most frequent target for chromosomal translocation in leukemia (1). Alterations of RUNX1 are typically loss of function or decreased function, and are considered "secondary driver mutations" (disease progression) in sporadic leukemias (2), but germline RUNX1 mutations contribute a lifetime risk of myeloid malignancy of about 44% (2). RUNX1 mutations (loss of function or decreased function) have been associated with decreased P53 activity and increased DNA repair defects and increased inflammation (2).