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APC APC regulator of WNT signaling pathway

Gene ID: 324, updated on 29-Mar-2023
Gene type: protein coding
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 pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022]

Copy number response

Copy number response

No evidence available (Last evaluated 2021-07-18)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-18)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 5; NC_000005.10 (112707498..112846239)
Total number of exons:


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