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Reviewed March 2013
What is the official name of the CTNNB1 gene?
The official name of this gene is “catenin (cadherin-associated protein), beta 1, 88kDa.”
CTNNB1 is the gene's official symbol. The CTNNB1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CTNNB1 gene?
The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where 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 involved in cell signaling as an essential part of the WNT signaling pathway. Certain proteins in this pathway attach (bind) to beta-catenin, which triggers a multi-step process that allows the protein to move into the nucleus. Once in the nucleus, beta-catenin interacts with other proteins to control the activity (expression) of particular 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.
How are changes in the CTNNB1 gene related to health conditions?
Where is the CTNNB1 gene located?
Cytogenetic Location: 3p21
Molecular Location on chromosome 3: base pairs 41,240,941 to 41,281,938
The CTNNB1 gene is located on the short (p) arm of chromosome 3 at position 21.
More precisely, the CTNNB1 gene is located from base pair 41,240,941 to base pair 41,281,938 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CTNNB1?
You and your healthcare professional may find the following resources about CTNNB1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CTNNB1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CTNNB1?
acids ; benign ; cancer ; carcinoma ; cell ; cell adhesion ; class ; colorectal ; connective tissue ; desmoid ; differentiation ; endometrial ; exon ; gene ; hair follicle ; medulloblastoma ; nucleus ; ovarian ; proliferation ; protein ; sporadic ; stem cells ; thyroid ; tissue ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.