菜单 基因医生

由该基因编码的蛋白质，低密度脂蛋白相关蛋白2（lrp2）或megalin，是一种多配体内吞受体，在许多不同的组织中表达，但主要在肾等可吸收的上皮组织中表达。这种糖蛋白有一个大的氨基末端胞外结构域、一个单一的跨膜结构域和一个短的羧基末端胞质尾部。细胞外配体结合区结合多种大分子，包括白蛋白、载脂蛋白b和e以及脂蛋白脂酶。lrp2蛋白对许多配体的再摄取至关重要，包括脂蛋白、固醇、维生素结合蛋白和激素。这种蛋白在细胞信号传导中也有作用；细胞外配体包括甲状旁腺激素和形态发生素声波刺猬，而胞浆配体包括MAP激酶支架蛋白和JNK相互作用蛋白。膜受体的循环是由其胞质结构域的磷酸化调节的。该基因突变可导致Donnai-Barrow综合征（DBS）和面-眼-表-肾综合征（FOAR）。[由Refseq提供，2009年8月]
The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]