Runx2

Runx2

Cbfa1/Runx2 is key transcription factor associated with osteoblast differentiation.

This protein is a member of the RUNX family of transcription factors and has a Runt DNA-binding domain. It 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. Transcript variants of the gene that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [cite web | title = Entrez Gene: RUNX2 runt-related transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=860| accessdate = ]

Pathology

Mutations in Cbfa1/Runx2 are associated with the disease Cleidocranial dysostosis.

See also

*RUNX1
*RUNX3

References

Further reading

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citations =
*cite journal | author=Otto F, Kanegane H, Mundlos S |title=Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. |journal=Hum. Mutat. |volume=19 |issue= 3 |pages= 209–16 |year= 2002 |pmid= 11857736 |doi= 10.1002/humu.10043
*cite journal | author=Komori T |title= [Cbfa1/Runx2, an essential transcription factor for the regulation of osteoblast differentiation] |journal=Nippon Rinsho |volume=60 Suppl 3 |issue= |pages= 91–7 |year= 2002 |pmid= 11979975 |doi=
*cite journal | author=Stock M, Otto F |title=Control of RUNX2 isoform expression: the role of promoters and enhancers. |journal=J. Cell. Biochem. |volume=95 |issue= 3 |pages= 506–17 |year= 2005 |pmid= 15838892 |doi= 10.1002/jcb.20471
*cite journal | author=Blyth K, Cameron ER, Neil JC |title=The RUNX genes: gain or loss of function in cancer. |journal=Nat. Rev. Cancer |volume=5 |issue= 5 |pages= 376–87 |year= 2005 |pmid= 15864279 |doi= 10.1038/nrc1607
*cite journal | author=Schroeder TM, Jensen ED, Westendorf JJ |title=Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. |journal=Birth Defects Res. C Embryo Today |volume=75 |issue= 3 |pages= 213–25 |year= 2005 |pmid= 16187316 |doi= 10.1002/bdrc.20043

External links

*

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