RUNX2

(redirected from Cbfa1)
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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.
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References in periodicals archive ?
Inorganic phosphate can also activate Cbfa1. In fact, vascular cellular culture studies have been carried out with the intention to describe the effect of Cbfa1 over osteoblastic differentiation, and they have reported an induced mineralization and OPN expression after inorganic phosphate was added.[sup][34],[35],[36] This can be clinically related to the high presence of calcified plaques in patients with CKD,[sup][34],[35] who suffer from high levels of phosphate for two main reasons: poor glomerular filtration rate and, as a result, secondary hyperparathyroidism (a common complication of CKD).
The fold changes of CBFA1 mRNA expression between the first and second weeks were nonsignificant for most tested groups, except for the [10.sup.-7] M calcitriol subgroups (P = 0.009, Table 2).
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.
Cbfa1 is a transcript factor important in differentiation of bone precursor cells into osteoblasts and subsequent bone formation.
(34.) Komori T, Yagi H., Nomura S, Yamaguchi A, Sasaki K, Deguchi K et al Targeted Disruption Of Cbfa1 Results In A Complete Lack Of Bone Formation Owing To Maturational Arrest Of Osteoblasts.
The levels of expression of Cbfa1 (Core binding factor alpha 1) and osteocalcin genes were significantly greater on stochastic grooved-textured implant surfaces relative to tissue culture plastic [27].
Existen tambien amplificaciones de la tripleta GCG que producen segmentos mas largos del aminoacido alanina en genes cuyas mutaciones causan diferentes padecimientos, en el sindrome del espasmo infantil se encuentra afectado el gen ARX, OMIM 308350; en la displasia cleidocraneal es el gen CBFA1, OMIM 119600; en el sindrome del epicantus inversus tipo 2 es el gen FOXL2, OMIM 110100; en el sindrome manos-pies y genitales es el gen HOXA13, OMIM 142959; en la poli-sindactilia se trata del gen HOXD13, OMIM 142989 y en la holoprosencefalia 5 se trata del gen ZIC2, OMIM 603073 (Anonimo 2004).
* The identification of a gene essential for the formation of bone--Through a convergence of efforts by investigators around the world, research has shown that normal skeletal development--in both mice and humans--apparently requires two active copies of the gene Cbfa1. This discovery is expected to open a number of exciting new research areas.
Mice missing the Cbfa1 gene don't form bones, which leaves them with a skeleton made only of cartilage, like sharks.
Thomas et al., "MAPK pathways activate and phosphorylate the osteoblast-specific transcription factor, Cbfa1," Journal of Biological Chemistry, vol.
Runx2 (Cbfa1, AML-3) interacts with histone deacetylase 6 and represses the p21(CIP1/WAF1) promoter.