Literature associating CTNND2 and familial adult myoclonic epilepsy 5
Catenin (cadherin-associated protein), delta 2; Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signaling. It probably acts on beta- catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.
Synonyms: CTNND2, CTNND2p, hCTNND2, B4DRK2, D6R9A8 ...