LRP6基因突变与药物因子介绍
该基因编码低密度脂蛋白（ldl）受体基因家族的一个成员。ldl受体是参与受体介导的脂蛋白和蛋白配体内吞的跨膜细胞表面蛋白。该基因编码的蛋白质作为wnt的受体或与frizzled一起作为wnt的共同受体，从而传递典型的wnt/β-catenin信号级联。通过与wnt/beta-catenin信号级联的相互作用，该基因在调节细胞分化、增殖、迁移和多种癌症类型的发展中发挥作用。该蛋白经历伽玛分泌酶依赖的RIP（调节膜内蛋白水解）处理，但切割位点的精确位置尚未确定。[由Refseq提供，2009年12月]
This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
