AML/Runx factors are essential for blood, skeletal and gastric development and are composed of heterodimeric α and β subunits. In mammals, the α subunits are encoded by three genes, Runx1, 2 and 3, while the β subunit (PEBP2β, CBFβ) is ubiquitously expressed. AML-1/Runx1 is essential for definitive hematopoiesis and is one of the most frequently mutated genes in human leukemia development, while AML-3/Runx2 controls osteoblast differentiation and the development of hypertrophic cartilage. Mutations of AML-3 lead to the rare bone disease cleidocranial dysplasia (CCD) and are associated with human leukemia.


