msh homeobox 2
Last updated 14 Apr 2023
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The MSX2 gene provides instructions for producing a protein that is necessary for proper development of cells and tissues throughout the body. The MSX2 protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Specifically, the protein controls the activity of genes that regulate cell growth and division (proliferation), cell maturation and specialization (differentiation), and cell survival. The regulation of these functions ensures that cells start and stop growing at specific times and that they are positioned correctly during development.
Normal function
The MSX2 gene provides instructions for producing a protein that is necessary for proper development of cells and tissues throughout the body. The MSX2 protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Specifically, the protein controls the activity of genes that regulate cell growth and division (proliferation), cell maturation and specialization (differentiation), and cell survival. The regulation of these functions ensures that cells start and stop growing at specific times and that they are positioned correctly during development.
The MSX2 protein is part of a chemical signaling pathway known as the bone morphogenic protein (BMP) pathway. This signaling pathway regulates various cellular processes and is involved in the growth of cells, including new bone cells. The MSX2 protein seems to be particularly critical for the development of the skull.
Conditions referring to this gene or chromosome
Other names
CRS2
FPP
HOX8
MSH
msh homeobox homolog 2
MSX2_HUMAN
PFM
PFM1
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Further reading and references
- msh homeobox 2; MedlinePlus, National Library of Medicine.
- Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ. Boston type craniosynostosis: report of a second mutation in MSX2. Am J Med Genet A. 2013 Oct;161A(10):2626-33. doi: 10.1002/ajmg.a.36126. Epub 2013 Aug 15.
- Griessenauer CJ, Veith P, Mortazavi MM, Stewart C, Grochowsky A, Loukas M, Tubbs RS. Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment. Childs Nerv Syst. 2013 Apr;29(4):543-7. doi: 10.1007/s00381-012-1982-7. Epub 2012 Dec 4.
- Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 2000 Apr;24(4):387-90. doi: 10.1038/74224.
- Wu Q, Zhang L, Su P, Lei X, Liu X, Wang H, Lu L, Bai Y, Xiong T, Li D, Zhu Z, Duan E, Jiang E, Feng S, Han M, Xu Y, Wang F, Zhou J. MSX2 mediates entry of human pluripotent stem cells into mesendoderm by simultaneously suppressing SOX2 and activating NODAL signaling. Cell Res. 2015 Dec;25(12):1314-32. doi: 10.1038/cr.2015.118. Epub 2015 Oct 2.
- Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet. 2000 May 1;9(8):1251-5. doi: 10.1093/hmg/9.8.1251.
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