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Official Full Name: APC regulator of WNT signaling pathway
Also known as: GS; DP2; DP3; BTPS2; DESMD; DP2.5; PPP1R46
This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant premalignant lesion that usually progresses to malignancy. Mutations in the APC gene have been found to occur in the majority of colorectal cancers, where disease-associated mutations tend to cluster in a small region known as the mutation cluster region (MCR) and lead to truncated protein products.