APOBR
Description
The APOB Receptor (APOB-R) gene, also known as the low-density lipoprotein receptor (LDLR) gene, plays a vital role in regulating lipid metabolism. It encodes for a protein that acts as a receptor on the surface of cells, specifically binding to apolipoprotein B (apoB) containing lipoproteins, primarily low-density lipoprotein (LDL). This binding triggers the internalization and degradation of LDL, effectively lowering cholesterol levels in the blood. Mutations in the APOB-R gene can disrupt this process, leading to elevated LDL cholesterol and an increased risk of cardiovascular disease.
Associated Diseases
Did you know?
The APOB-R gene is one of the most extensively studied genes in human genetics due to its direct link to cardiovascular disease.
