Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with axin1, axin2, apc, csnk1a1 and gsk3b that promotes phosphorylation on N-terminal Ser and Thr...[+]

Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with axin1, axin2, apc, csnk1a1 and gsk3b that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of ctnnb1 and its subsequent degradation by the proteasome. In the presence of Wnt ligand, ctnnb1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Plays a key role in dorsoventral patterning: in prospective ventral blastomeres, its down-regulation by axin1 and axin2 leads to inhibit the Wnt signaling pathway, while in prospective dorsal blastomeres, degradation of axin results in stabilization and nuclear translocation of ctnnb1. [-]

             medulloblastoma
             ovarian cancer
             craniopharyngioma
             pilomatrixoma
             hepatocellular carcinoma
             colorectal cancer
             autosomal dominant intellectual developmental disorder 19
             exudative vitreoretinopathy 7

          HEPATOCELLULAR CARCINOMA
          COLORECTAL CANCER; CRC
          PILOMATRIXOMA
          EXUDATIVE VITREORETINOPATHY 7; EVR7
          NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV
          OVARIAN CANCER

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD

GSE77363, GSE93195, GSE113186, GSE122551, GSE148726.