Gene Symbol | CTNNB1 |
Entrez Gene ID | 1499 |
Full Name | catenin beta 1 |
Synonyms | CTNNB,EVR7,MRD19,armadillo |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 19, 615075 (3); Colorectal cancer, somatic, 114500 (3); Pilomatricoma, somatic, 132600 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3); Medulloblastoma, somatic, 155255 (3); Exudative vitreoretinopathy 7, 617572 (3) |