Low Density Lipoprotein Receptor Adaptor Protein 1 Protein

Background

Low-Density Lipoprotein Receptor Adapter Protein 1 (LDLRAP1), also known as ARH (autosomal recessive hypercholesterolemia protein), is a crucial adaptor protein that plays a pivotal role in the trafficking and internalization of low-density lipoprotein (LDL) receptors. It is predominantly expressed in hepatocytes and other tissues involved in cholesterol homeostasis. LDLRAP1 functions by linking the cytoplasmic tail of LDL receptors to clathrin-coated pits, facilitating receptor-mediated endocytosis of LDL particles. Mutations in the LDLRAP1 gene are associated with autosomal recessive hypercholesterolemia (ARH), a rare genetic disorder characterized by elevated plasma LDL cholesterol levels due to impaired clearance of LDL from circulation. This protein's interaction with other cellular components, such as AP-2 and clathrin, highlights its essential role in lipid metabolism and receptor recycling. As a significant contributor to cholesterol regulation, LDLRAP1 has been a subject of intense research, particularly for developing therapeutic strategies targeting cholesterol-related disorders.