Gene Symbol | APC |
Entrez Gene ID | 324 |
Full Name | APC, WNT signaling pathway regulator |
Synonyms | BTPS2,DP2,DP2.5,DP3,GS,PPP1R46 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3) |