基因名:
APC
产品别名:
BTPS2; DESMD; DP2; DP2.5; DP3; GS; PPP1R46; APC; APC regulator of WNT signaling pathway; APC regulator of WNT signaling pathway; adenomatous polyposis coli protein; APC, WNT signaling pathway regulator; WNT signaling pathway regulator; adenomatosis polyposis coli tumor suppressor; adenomatous polyposis coli (APC); deleted in polyposis 2.5; epididymis secretory sperm binding protein; protein phosphatase 1, regulatory subunit 46; 激活蛋白C(APC); 磷酸化腺瘤样息肉; 腺瘤息肉病大肠杆菌蛋白(APC); 腺瘤样息肉;
背景信息:
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].