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CTNNB1 catenin beta 1

Also known as: 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Carcinoma of colon
MedGen: C0699790OMIM: 114500GeneReviews: Lynch Syndrome
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EXUDATIVE VITREORETINOPATHY 7
MedGen: CN321863OMIM: 617572GeneReviews: Not available
not available
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
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Medulloblastoma
MedGen: C0025149OMIM: 155255GeneReviews: Not available
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Mental retardation, autosomal dominant 19
MedGen: C3554449OMIM: 615075GeneReviews: Not available
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Neoplasm of ovary
MedGen: C0919267OMIM: 167000GeneReviews: Not available
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Pilomatrixoma
MedGen: C0206711OMIM: 132600GeneReviews: Not available
See labs

Genomic context

Location:
3p22.1
Sequence:
Chromosome: 3; NC_000003.12 (41199451..41240448)
Total number of exons:
17

Links

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