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Apc, wnt signaling pathway regulator

From Wikipedia, the free encyclopedia
APC
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAPC, BTPS2, DP2, DP2.5, DP3, GS, PPP1R46, adenomatous polyposis coli, WNT signaling pathway regulator, Genes
External IDsOMIM: 611731; MGI: 88039; HomoloGene: 30950; GeneCards: APC; OMA:APC - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127511
NM_000038
NM_001127510

NM_007462
NM_001360979
NM_001360980

RefSeq (protein)

n/a

Location (UCSC)n/aChr 18: 34.22 – 34.32 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

APC, WNT signaling pathway regulator is a protein that in humans is encoded by the APC gene.[4]

Function

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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].

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005871Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Entrez Gene: APC, WNT signaling pathway regulator". Retrieved 2018-05-22.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.