LP19689-6
CTNNB1 gene
Active
Description
The CTNNB1 gene (catenin (cadherin-associated protein), beta 1, 88kDa) [HGNC Gene ID:2514] is located on chromosome 3p21. 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. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] [NCBI Gene ID:1499] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CTNNB1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- CTNNB1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CTNB1 基因 Synonyms: Beta-catenin 基因; |
| et-EE | Estonian (Estonia) | CTNNB1 geen |
| es-ES | Spanish (Spain) | Gen CTNNB1 |
| it-IT | Italian (Italy) | CTNNB1, gene Synonyms: Gene CTNNB1 |
| tr-TR | Turkish (Turkey) | CTNNB1 geni |
| ru-RU | Russian (Russian Federation) | CTNNB1 ген |
| nl-NL | Dutch (Netherlands) | CTNNB1-gen Synonyms: CTNNB1 gen |
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