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APC APC, WNT signaling pathway regulator

Also known as: GS; DP2; DP3; BTPS2; 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. 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, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Carcinoma of colon
MedGen: C0699790OMIM: 114500GeneReviews: Not available
See labs
Desmoid disease, hereditary
MedGen: C1851124OMIM: 135290GeneReviews: Not available
See labs
Familial adenomatous polyposis 1See labs
Hepatocellular carcinoma
MedGen: C2239176OMIM: 114550GeneReviews: Not available
See labs
Neoplasm of stomach
MedGen: C0038356OMIM: 613659GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
5q22.2
Sequence:
Chromosome: 5; NC_000005.10 (112707505..112846239)
Total number of exons:
18

Links

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