RUNX2

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RUNX2

A gene on chromosome 6p21 that encodes a nuclear protein member of the RUNX family of transcription factors with a Runt DNA-binding domain. RUNX2 is essential for osteoblastic differentiation and skeletal morphogenesis, and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression.

Molecular pathology
RUNX2 mutations cause cleidocranial dysplasia, a bone development disorder.
References in periodicals archive ?
Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts.
CCD is a rare skeletal disease caused by mutation in the CBFA1 gene on chromosome 6p21, affecting both sexes and all ethnic groups equally with a prevalence of approximately 1 in 1 million individuals.
Collagen I is the primary component of the bone extracellular matrix and its expression is regulated by the Cbfa1 transcriptional regulator [2, 5].
Bone regeneration using an acellular extracellular matrix and bone marrow mesenchymal stem cells expressing Cbfa1.
To our knowledge there has not been a report in the literature on the fabrication of microgroove gradients and their application in the study of Cbfa1 expression, activation and osteoblast differentiation.
Antibodies to Cbfa1 (Runx2) were from Abcam, Cambridge, MA, USA, and anti-rabbit IgG conjugated to Alexa Fluor 594 from Invitrogen.
Cellular differentiation was illustrated by the visualization of Cbfa1 in osteoblasts attached on the microtextured surfaces.
Four reports in the May 30 Cell and one scheduled for the July 1 Journal of Cellular Biochemistry describe the discovery that Cbfa1 is vital to bone-forming cells, or osteoblasts.
Olsen and his group came across Cbfa1 during a search for the genetic mutations that cause cleidocranial dysplasia syndrome (CCD), a rare human skeletal disorder.
As his team hunted for the CCD gene, Olsen heard that two other groups had created mice with a similar skeletal disorder by mutating the mouse Cbfa1 gene.
Transient upregulation of CBFA1 in respones to bone morphogenetic protein-2 and transforming growth factor betal in C2C12myogenic cells coincides with suppression of the myogenic phenotype but is not suffient for osteoblast differentiation.
MAPK pathways activate and phosphorylate the osteoblast-specific transcription factor, Cbfa1.