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LDLR gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LDLR gene

The LDLR gene provides instructions for the low-density lipoprotein receptor, which is critical for regulating cholesterol levels in the blood.

Normal Function

The LDLR gene provides instructions for making the low-density lipoprotein receptor. These receptors are located on the surface of many cell types, particularly in the liver, where they bind to low-density lipoproteins (LDLs)—the primary carriers of cholesterol in the bloodstream. Once bound, the receptors transport LDLs into the cell, where they are broken down to release cholesterol for cellular use, storage, or removal from the body. After dropping off their cargo, the receptors are recycled back to the cell surface to collect more LDLs. The number of these receptors on liver cells determines how efficiently cholesterol is removed from the blood.

Health Conditions Related to Genetic Changes

Familial hypercholesterolemia

Mutations in the LDLR gene cause familial hypercholesterolemia, a condition characterized by very high blood cholesterol levels. Over 2,000 mutations have been identified, which generally function in one of two ways:

  • Reducing the total number of low-density lipoprotein receptors produced by cells.
  • Disrupting the ability of the receptors to effectively remove LDLs from the blood.

As a result of these mutations, excess cholesterol circulates in the bloodstream and is deposited in tissues such as the skin, tendons, and coronary arteries. This buildup significantly increases the risk of heart disease and heart attacks. While most individuals inherit one altered copy of the gene, leading to early heart disease in their forties or fifties, inheriting two mutated copies results in a much more severe form of the condition that typically manifests in childhood.

Other Names for This Gene

  • FHC
  • LDL receptor
  • LDLCQ2
  • LDLR_HUMAN
  • Low density lipoprotein (LDL) receptor
  • low density lipoprotein receptor (familial hypercholesterolemia)

Genomic Location

The LDLR gene is found on chromosome 19.

Frequently Asked Questions

Key indicators include xanthomas (fatty deposits on tendons or skin), corneal arcus (gray ring around the cornea), and a personal or family history of heart attack or stroke before age 55 in men or 60 in women. If any of these are present, a lipid panel and genetic testing for LDLR mutations are recommended.
Most guidelines recommend starting screening between 8 and 10 years old, especially if the parent has a severe mutation or early heart disease. Once diagnosed, LDL levels should be checked every 6 to 12 months to guide treatment adjustments.
combination of a low‑saturated‑fat, Mediterranean‑style diet, regular aerobic exercise, and weight management is foundational. Pharmacologically, high‑intensity statins are first‑line therapy; if LDL remains above target, adding ezetimibe or a PCSK9 inhibitor can provide additional reduction. Lifestyle and medication should be tailored to the individual’s risk profile.
Heterozygous carriers (one mutated allele) typically develop high LDL levels in adulthood and benefit from early statin therapy and lifestyle changes. Homozygous individuals (two mutated alleles) experience much higher LDL levels, often from infancy, and may require aggressive treatment such as high‑dose statins, PCSK9 inhibitors, or even LDL apheresis to prevent early cardiovascular events.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.