| Entrez Gene ID |
324 (NCBI Gene) |
| Official Gene Symbol |
APC (GeneCards) |
| Number of variants in APC in this database |
13 (view all the variants) |
| Full name |
APC, WNT signaling pathway regulator |
| Band |
5q22.2 |
| Other IDs |
Vega:
OTTHUMG00000128806
OMIM:
611731
HGNC:
HGNC:583
Ensembl:
ENSG00000134982
|
| Other names |
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] |