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Adenomatous Polyposis Coli Protein
Definition 1
APC protein is expressed in many tissues. The cytoplasmic APC complex may regulate cell adhesion or transmission of contact inhibition signals into cells. APC is associated with beta-Catenin, which binds and activates E-Cadherin that controls formation and maintenance of epithelial adherens junctions. The APC/ASEF/beta-Catenin complex regulates the actin cytoskeleton and cell morphology/migration. Inactivating mutations of APC cause accumulation of beta-Catenin, which binds TCF4 and increases transcription of target genes (e.g., c-MYC) and binds GSK3-beta in the WNT signaling pathway. APC is a nucleocytoplasmic shuttle protein. During mitosis, APC localizes to microtubule ends within kinetochores forming a complex with BUB1 and BUB3 checkpoint proteins. APC mutant cells form mitotic spindles with microtubules that ineffectively connect with kinetochores, leading to chromosomal instability and defective chromosome segregation. (from OMIM and NCI) (NCI Thesaurus)
Definition 2
The metabolic function of the APC is not known. 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. Identification of in vitro interactions with beta-catenin suggest that the APC protein may be involved with cell adhesion. (from LocusLink and OMIM) (NCI Thesaurus)
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