CTNNB1 (Entrez ID: 1499)

Entrez Gene ID 1499
Official Gene Symbol CTNNB1 (GeneCards)
Full name catenin beta 1
Location 3p22.1
Other ids Vega : OTTHUMG00000131393
MIM : 116806
HGNC : HGNC:2514
Ensembl : ENSG00000168036
Other names EVR7, CTNNB, MRD19, armadillo
Summary The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Variants

Found 2 variants in this database.