Gene LDLR

Also known as

LDL receptor, FH, FHCL1, low density lipoprotein receptor

Overview

LDLR (Low Density Lipoprotein Receptor) encodes the cell surface receptor responsible for clearing LDL cholesterol from the bloodstream. The LDLR binds LDL particles and mediates their uptake into cells through receptor-mediated endocytosis. This process is the primary mechanism for removing LDL cholesterol from circulation and is essential for cholesterol homeostasis.

Mutations in LDLR are the most common cause of familial hypercholesterolemia (FH), affecting approximately 1 in 250 people. FH is characterized by severely elevated LDL cholesterol from birth, leading to premature atherosclerosis and heart disease. Without treatment, heterozygous FH patients may have heart attacks in their 30s-40s, while homozygous patients can develop coronary disease in childhood.

Understanding your LDLR genetic status is critical for cardiovascular risk assessment. Early identification of familial hypercholesterolemia enables aggressive lipid-lowering therapy that can dramatically reduce cardiovascular events and extend lifespan.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene LDLR through your personalized DNA reports.