catenin beta 1
Last updated 26 Aug 2025
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The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues. It is primarily found at junctions that connect neighboring cells (adherens junctions). Beta-catenin plays an important role in sticking cells together (cell adhesion) and in communication between cells.
Normal function
The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues. It is primarily found at junctions that connect neighboring cells (adherens junctions). Beta-catenin plays an important role in sticking cells together (cell adhesion) and in communication between cells.
The beta-catenin protein is also an essential part of the Wnt signaling pathway. Certain proteins in this pathway attach (bind) to beta-catenin, which triggers a multistep process that allows the protein to move into the cell nucleus. Once in the nucleus, beta-catenin interacts with other proteins to control the activity (expression) of specific genes. The Wnt signaling pathway promotes the growth and division (proliferation) of cells and helps determine the specialized functions a cell will have (differentiation). Wnt signaling is known to be involved in many aspects of development before birth. In adult tissues, this pathway plays a role in the maintenance and renewal of stem cells, which are cells that help repair tissue damage and can give rise to other types of cells.
Among its many activities, beta-catenin appears to play an important role in the normal function of hair follicles, which are specialized structures in the skin where hair growth occurs. This protein is active in cells that make up a part of the hair follicle known as the matrix. These cells divide and mature to form the different components of the hair follicle and the hair shaft. As matrix cells divide, the hair shaft is pushed upward and extends beyond the skin.
Conditions referring to this gene or chromosome
Other names
beta-catenin
catenin beta-1
CTNB1_HUMAN
CTNNB
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Further reading and references
- catenin beta 1; MedlinePlus, National Library of Medicine.
- Al-Hussain T, Ali A, Akhtar M. Wilms tumor: an update. Adv Anat Pathol. 2014 May;21(3):166-73. doi: 10.1097/PAP.0000000000000017.
- Barker N. The canonical Wnt/beta-catenin signalling pathway. Methods Mol Biol. 2008;468:5-15. doi: 10.1007/978-1-59745-249-6_1.
- Chan EF, Gat U, McNiff JM, Fuchs E. A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet. 1999 Apr;21(4):410-3. doi: 10.1038/7747.
- Deng C, Dai R, Li X, Liu F. Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review. Cancer Sci. 2016 May;107(5):690-9. doi: 10.1111/cas.12910. Epub 2016 Mar 18.
- Ferenc T, Wronski JW, Kopczynski J, Kulig A, Sidor M, Stalinska L, Dziki A, Sygut J. Analysis of APC, alpha-, beta-catenins, and N-cadherin protein expression in aggressive fibromatosis (desmoid tumor). Pathol Res Pract. 2009;205(5):311-24. doi: 10.1016/j.prp.2008.11.002. Epub 2009 Jan 4.
- Fu Y, Zheng S, An N, Athanasopoulos T, Popplewell L, Liang A, Li K, Hu C, Zhu Y. beta-catenin as a potential key target for tumor suppression. Int J Cancer. 2011 Oct 1;129(7):1541-51. doi: 10.1002/ijc.26102. Epub 2011 Jun 21.
- Ho SKL, Tsang MHY, Lee M, Cheng SSW, Luk HM, Lo IFM, Chung BHY. CTNNB1 Neurodevelopmental Disorder. 2022 May 19. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK580527/
- Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, Kunstlinger H, Hartmann W, Hohenberger P, Merkelbach-Bruse S, Buettner R, Schildhaus HU. beta-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013 Jan;62(2):294-304. doi: 10.1111/j.1365-2559.2012.04355.x. Epub 2012 Sep 28.
- Kajino Y, Yamaguchi A, Hashimoto N, Matsuura A, Sato N, Kikuchi K. beta-Catenin gene mutation in human hair follicle-related tumors. Pathol Int. 2001 Jul;51(7):543-8. doi: 10.1046/j.1440-1827.2001.01231.x.
- Kotiligam D, Lazar AJ, Pollock RE, Lev D. Desmoid tumor: a disease opportune for molecular insights. Histol Histopathol. 2008 Jan;23(1):117-26. doi: 10.14670/HH-23.117.
- Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH. Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin. J Cutan Pathol. 2005 Feb;32(2):148-57. doi: 10.1111/j.0303-6987.2005.00267.x.
- Lips DJ, Barker N, Clevers H, Hennipman A. The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). Eur J Surg Oncol. 2009 Jan;35(1):3-10. doi: 10.1016/j.ejso.2008.07.003. Epub 2008 Aug 21.
- MacDonald BT, Tamai K, He X. Wnt/beta-catenin signaling: components, mechanisms, and diseases. Dev Cell. 2009 Jul;17(1):9-26. doi: 10.1016/j.devcel.2009.06.016.
- Moreno-Bueno G, Gamallo C, Perez-Gallego L, Contreras F, Palacios J. beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br J Dermatol. 2001 Oct;145(4):576-81. doi: 10.1046/j.1365-2133.2001.04455.x.
- Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P, Van Cutsem E, Bapat B, van Roy F, Cassiman JJ, Alman BA. Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene. 1999 Nov 11;18(47):6615-20. doi: 10.1038/sj.onc.1203041.
- Xia J, Urabe K, Moroi Y, Koga T, Duan H, Li Y, Furue M. beta-Catenin mutation and its nuclear localization are confirmed to be frequent causes of Wnt signaling pathway activation in pilomatricomas. J Dermatol Sci. 2006 Jan;41(1):67-75. doi: 10.1016/j.jdermsci.2005.09.005. Epub 2005 Dec 27.
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