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RUNX2, a nuclear protein, is a member of the RUNX family of transcription factors and has an Runt DNA-binding domain. It is essential for membranous and endochondral bone formation. It not only regulates osteoblastic differentiation and skeletal morphogenesis but also acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer and with more affinity, as a subunit of a heterodimeric complex. It plays a critical role in increasing TGFBR1 expression by osteoblasts and functions in cooperation with DLX5 or a related factor to activate osteoblast-specific gene expression. Mutations lead to disorders in bone development like cleidocranial dysplasia (CCD).
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Protein Aliases: Acute myeloid leukemia 3 protein; AKV core binding factor; AML-3; CBF-alpha-1; core binding factor alpha 1; Core-binding factor subunit alpha-1; core-binding factor, runt domain, alpha subunit 1; Oncogene AML-3; OSF-2; Osteoblast-specific transcription factor 2; PEA2-alpha A; PEBP2 alpha A; PEBP2-alpha A; Polyomavirus enhancer-binding protein 2 alpha A subunit; runt domain, alpha subunit 1; runt related transcription factor 2; Runt-related transcription factor 2; RUNX 2; RUNX-2; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit
Gene Aliases: AML3; Cbf; CBF-alpha-1; Cbfa-1; CBFA1; CCD; CCD1; CLCD; LS3; OSF-2; OSF2; PEA2aA; PEBP2A; Pebp2a1; PEBP2aA; Pebpa2a; RUNX2