Analysis of LRP2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1493-LGZ)

Introduction

Official Full Name: LDL receptor related protein 2<br />Also known as: BS; GP330; LRP-2<br />The protein encoded by this gene, low-density lipoprotein-related protein 2 (LRP2) or meggalin, is a multiligand endocytic receptor expressed in many different tissues, but mainly in absorbing epithelial tissues such as the kidney. The glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding domain binds a variety of macromolecules, including albumin, apolipoproteins B and E, and lipoprotein lipase. LRP2 proteins are critical for the reuptake of many ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also plays a role in cell signaling; extracellular ligands include parathyroid hormone and the morphogen sonic hedgehog, and intracytoplasmic 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 Donai-Barro syndrome (DBS) and facial-ocular-acoustic-renal syndrome (FOAR).