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

LCAT gene

The LCAT gene provides instructions for an enzyme that helps remove cholesterol from the blood and tissues, playing a vital role in lipid metabolism.

Normal Function

The LCAT gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). This enzyme is essential for removing cholesterol from the blood and tissues through a process called cholesterol esterification. This process converts cholesterol into a form that can be efficiently carried by lipoproteins to the liver for redistribution or removal from the body.

The enzyme has two major functions:

  • Alpha-LCAT activity: Attaches cholesterol to high-density lipoprotein (HDL).
  • Beta-LCAT activity: Attaches cholesterol to very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).

Health Conditions Related to Genetic Changes

Complete LCAT deficiency

This disorder is caused by mutations in both copies of the LCAT gene, which either prevent the production of the enzyme or impair both alpha- and beta-LCAT activity. This leads to cholesterol deposits in the corneas, kidneys, and other tissues, resulting in corneal clouding and kidney problems.

Fish-eye disease

Also known as partial LCAT deficiency, this condition is caused by mutations that specifically impair alpha-LCAT activity. This reduces the enzyme's ability to attach cholesterol to HDL, leading to cholesterol deposits in the corneas that cause them to become cloudy.

Other disorders

Individuals with a single LCAT gene mutation may have an increased risk of atherosclerosis. This is likely due to reduced alpha-LCAT activity and less efficient transport of cholesterol from the blood, which can lead to the accumulation of fatty deposits in the arteries.

Other Names for This Gene

  • LCAT_HUMAN
  • phosphatidylcholine-sterol acyltransferase
  • phosphatidylcholine-sterol acyltransferase precursor
  • phospholipid-cholesterol acyltransferase

Frequently Asked Questions

Individuals with homozygous or compound heterozygous LCAT mutations show near-total depletion of high-density lipoprotein cholesterol (HDL-C), often below 5 to 10 mg/dL, alongside elevated triglycerides and variable low-density lipoprotein (LDL) levels. Blood tests also detect an abnormal, nephrotoxic lipoprotein particle called lipoprotein-X (Lp-X), which accumulates in tissues and drives kidney failure.
Patients require lifelong renal surveillance, including regular checks of blood pressure, estimated glomerular filtration rate (eGFR), and urine albumin-to-creatinine ratios. Routine slit-lamp ophthalmologic exams track the density of corneal deposits, while periodic complete blood counts monitor for Coombs-negative hemolytic anemia. First-line medical therapy often incorporates ACE inhibitors or ARBs to reduce proteinuria and delay renal decline.
Complete LCAT deficiency involves the loss of both alpha- and beta-LCAT activity, leading to progressive corneal opacification, hemolytic anemia, and severe kidney damage that often culminates in end-stage renal disease. Fish-eye disease, or partial deficiency, impairs only alpha-LCAT activity; patients develop dense, grayish corneal clouding that resembles boiled fish eyes, but their renal function and red blood cell survival typically remain preserved.
LCAT deficiency is inherited in an autosomal recessive pattern, meaning an individual must inherit a mutated copy of the gene from each parent to develop the full disease. Heterozygous carriers have one mutated copy and one normal copy; while they do not develop renal disease or severe corneal clouding, they typically have moderately reduced HDL-C levels and may carry an elevated long-term risk for premature coronary atherosclerosis.
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.

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