CTNNBL1 catenin beta like 1
Gene ID: 56259, updated on 17-Jun-2024Gene type: protein coding
Also known as: NAP; P14L; IMD99; PP8304; C20orf33; dJ633O20.1
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- Go to complete Gene record for CTNNBL1
- Go to Variation Viewer for CTNNBL1 variants
Summary
The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association with bone mass and geometry in the Framingham Heart Study. GeneReviews: Not available | |
| Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | not available |
Genomic context
- Location:
- 20q11.23
- Sequence:
- Chromosome: 20; NC_000020.11 (37694030..37872118)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTNNBL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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