基因名:
RUNX2
产品别名:
AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA; RUNX2; RUNX family transcription factor 2; RUNX family transcription factor 2; runt-related transcription factor 2; PEA2-alpha A; PEBP2-alpha A; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core-binding factor alpha A subunit; acute myeloid leukemia 3 protein; core-binding factor, runt domain, alpha subunit 1; oncogene AML-3; osteoblast-specific transcription factor 2; polyomavirus enhancer-binding protein 2 alpha A subunit; runt related transcription factor 2; Runt相关转录因子2(RUNX2); 核心结合因子α1/成骨特异性转录因子/Cbfα1; 磷酸化成骨特异性转录因子;
背景信息:
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. [provided by RefSeq, Jul 2008].