Description
The adenomatous polyposis syndromes, familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), are characterized by numerous adenomatous polyps throughout the entire colon. These polyps invariably progress to colon cancer in addition to other extracolonic manifestations. The cloning of the APC gene revealed a ubiquitously expressed protein, 2,843 amino acids in length, which is frequently mutated in patients suffering from FAP and GS. APC has been found to be associated with structural components of intracellular junctions. Functions as a tumor suppressor, promoting rapid degradation of CTNNB1 and is a negative regulator of Wnt signaling. Also plays a role in HGF-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization