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APC APC regulator of WNT signaling pathway

Gene ID: 324, updated on 19-Sep-2021
Gene type: protein coding
Also known as: GS; DP2; DP3; BTPS2; DESMD; DP2.5; PPP1R46

Summary

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. 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, Dec 2019]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Colorectal cancer
MedGen: C0009402OMIM: 114500GeneReviews: Lynch Syndrome
not available
Desmoid disease, hereditary
MedGen: C1851124OMIM: 135290GeneReviews: Not available
not available
Familial adenomatous polyposis 1not available
Familial multiple polyposis syndrome
MedGen: C0032580GeneReviews: Not available
not available
Gastric adenocarcinoma and proximal polyposis of the stomach
MedGen: C4749917OMIM: 619182GeneReviews: Not available
not available
Gastric cancer
MedGen: C0024623OMIM: 613659GeneReviews: Not available
not available
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q22.2
Sequence:
Chromosome: 5; NC_000005.10 (112707498..112846239)
Total number of exons:
20

Links

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