APC

Name

APC regulator of Wnt signaling pathway

Type

protein-coding

Position

112,707,498–112,846,239 (+)

Aliases

BTPS2, DESMD, DP2, DP2.5, DP3, GS, PPP1R46

Ensembl

ENSG00000134982

RefSeq RNA

NM_000038.6, NM_001127510.3, NM_001127511.3, NM_001354895.2, NM_001354896.2

RefSeq protein

NP_000029.2, NP_001120982.1, NP_001120983.2, NP_001341824.1, NP_001341825.1

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].