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 Blepharocheilodontic Syndrome 1. Among its related pathways are Cytoskeletal Signaling and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. 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 for CTNND1 Gene
Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.