Official Full Name
runt-related transcription factor 2
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt;DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as;a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA;both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been;associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different;protein isoforms result from the use of alternate promoters as well as alternate splicing.
RUNX2; runt-related transcription factor 2; CBFA1, CCD, CCD1; AML3; PEBP2A1; PEBP2aA1; CBF-alpha-1; PEA2-alpha A; PEBP2-alpha A; oncogene AML-3; acute myeloid leukemia 3 protein; SL3-3 enhancer factor 1 alpha A subunit; osteoblast-specific transcription f; Transcription factor RUNX2/CBFA1