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 pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product.
adenomatosis polyposis coli tumor suppressor; Adenomatous Polyposis Coli; Adenomatous polyposis coli protein; APC; Deleted in polyposis 2.5; DP2; DP2.5; DP3; FPC; Protein APC; protein phosphatase 1, regulatory subunit 46; truncated adenomatosis polyposis coli; WNT signaling pathway regulator
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