Aliases for CTNND1 Gene
External Ids for CTNND1 Gene
Previous HGNC Symbols for CTNND1 Gene
Previous GeneCards Identifiers for CTNND1 Gene
This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for CTNND1 Gene
CTNND1 (Catenin Delta 1) is a Protein Coding gene. Diseases associated with CTNND1 include Blepharocheilodontic Syndrome 2 and Cleft Lip With Or Without Cleft Palate. Among its related pathways are Adherens junction and Cell junction organization. Gene Ontology (GO) annotations related to this gene include binding and signaling receptor binding. An important paralog of this gene is ARVCF.
UniProtKB/Swiss-Prot Summary for CTNND1 Gene
Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Beside cell-cell adhesion, regulates gene transcription through several transcription factors including ZBTB33/Kaiso2 and GLIS2, and the activity of Rho family GTPases and downstream cytoskeletal dynamics (PubMed:10207085, PubMed:20371349). Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors (PubMed:17344476).