Literature associating CTNND1 and DiGeorge syndrome
CTNND1 [ENSP00000382004]
Catenin (cadherin-associated protein), delta 1; 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; Belongs to the beta-catenin family.
Synonyms: CTNND1, CTNND1p, hCTNND1, A0A024R4Y7, A0A024R4Z0 ...