Runx2
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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.[1]
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[edit] Pathology
Mutations in Cbfa1/Runx2 are associated with the disease Cleidocranial dysostosis.
[edit] References
[edit] Further reading
- Otto F, Kanegane H, Mundlos S (2002). "Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.". Hum. Mutat. 19 (3): 209–16. doi: . PMID 11857736.
- Komori T (2002). "[Cbfa1/Runx2, an essential transcription factor for the regulation of osteoblast differentiation]". Nippon Rinsho 60 Suppl 3: 91–7. PMID 11979975.
- Stock M, Otto F (2005). "Control of RUNX2 isoform expression: the role of promoters and enhancers.". J. Cell. Biochem. 95 (3): 506–17. doi: . PMID 15838892.
- Blyth K, Cameron ER, Neil JC (2005). "The RUNX genes: gain or loss of function in cancer.". Nat. Rev. Cancer 5 (5): 376–87. doi: . PMID 15864279.
- Schroeder TM, Jensen ED, Westendorf JJ (2005). "Runx2: a master organizer of gene transcription in developing and maturing osteoblasts.". Birth Defects Res. C Embryo Today 75 (3): 213–25. doi: . PMID 16187316.
[edit] External links
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