免 疫 原：KLH conjugated synthetic peptide derived from human RUNX2
抗原表位：202-300/521
SWISS：Q13950
Gene ID ：860
Human Gene ID：860

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].
Function：Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhanc
Subunit：Heterodimer of an alpha and a beta subunit. Interacts with HIVEP3. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with G22P1 (Ku70) and XRCC5 (Ku80). Interacts with MYST3 and
Subcellular Location：Nucleus.
Tissue Specificity：Specifically expressed in osteoblasts.
Post-translational modifications：Phosphorylated; probably by MAP kinases (MAPK). Isoform 3 is phosphorylated on Ser340.
DISEASE：Defects in RUNX2 are the cause of cleidocranial dysplasia (CLCD) [MIM:119600]; also known as cleidocranial dysostosis (CCD). CLCD is an autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondra
Similarity：Contains 1 Runt domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.