im:680590 antibody, lrp2 antibody, dbs antibody, gp330 antibody, megalin antibody, DBS antibody, GP330 antibody, AI315343 antibody, AW536255 antibody, D230004K18Rik antibody, Gp330 antibody, Megalin antibody, LDL receptor related protein 2 antibody, low density lipoprotein receptor-related protein 2a antibody, low density lipoprotein receptor-related protein 2 antibody, low-density lipoprotein receptor-related protein 2 antibody, LDL receptor related protein 2 L homeolog antibody, LRP2 antibody, lrp2a antibody, LRP2.3 antibody, lrp2.L antibody, LOC100183506 antibody, lrp2 antibody, Lrp2 antibody
背景
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).