RUNX family members are DNA-binding proteins that regulate the expression of genes involved in cellular differentiation and cell cycle progression. RUNX2 is essential for skeletal mineralization in that it stimulates osteoblast differentiation of mesenchymal stem cells, promotes chondrocyte hypertrophy and contributes to endothelial cell migration and vascular invasion of developing bones. Regulating RUNX2 expression may be a useful therapeutic tool for promoting bone formation. Mutations in the C-terminus of RUNX2 are associated with cleidocranial dysplasia syndrome, an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature.Synonyms: AML-3, AML3, Acute myeloid leukemia 3 protein, CBFA1, Core-binding factor subunit alpha-1, OSF-2, OSF2, Osteoblast-specific transcription factor 2, PEA2-alpha A, PEBP2-alpha A, PEBP2A, Polyomavirus enhancer-binding protein 2 alpha A subunit, Runt-related transcription factor 2, SL3-3 enhancer factor 1 alpha A subunit, SL3/AKV core-binding factor alpha A subunit