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

MTTP gene

The MTTP gene provides instructions for a protein necessary for the formation of beta-lipoproteins, which transport fats, cholesterol, and vitamins throughout the body.

Normal Function

The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein. This protein helps produce beta-lipoproteins, which are molecules made up of proteins (including apolipoprotein B), cholesterol, and fats called phospholipids and triglycerides.

In the intestine, beta-lipoproteins include chylomicrons, which carry dietary fats and cholesterol from the intestine to the bloodstream and are necessary for the absorption of fat-soluble vitamins (vitamins E, A, and K). In the liver, beta-lipoproteins include low-density lipoproteins (LDL) and very low-density lipoproteins (VLDL), which transport fats, cholesterol, and vitamins to tissues throughout the body.

Health Conditions Related to Genetic Changes

Abetalipoproteinemia

More than 60 mutations in the MTTP gene have been found to cause abetalipoproteinemia. This condition impairs the normal absorption of fats and fat-soluble vitamins from the diet and primarily affects the gastrointestinal system, eyes, nervous system, and blood.

Most MTTP gene mutations lead to the production of microsomal triglyceride transfer protein with reduced or absent function, preventing the formation of beta-lipoproteins. This results in a severe shortage of chylomicrons, LDLs, and VLDLs. A lack of these lipoproteins prevents dietary fats and fat-soluble vitamins from being absorbed and transported, leading to significant nutritional deficiencies and associated health problems.

Other Names for This Gene

  • ABL
  • microsomal TG transfer protein
  • microsomal triglyceride transfer protein (large polypeptide, 88kD)
  • microsomal triglyceride transfer protein large subunit
  • MTP
  • MTP triglyceride carrier
  • MTP_HUMAN

Frequently Asked Questions

very low‑fat diet supplemented with medium‑chain triglycerides (which bypass chylomicron formation) is standard, along with high‑dose oral fat‑soluble vitamins (A, D, E, K) often given in water‑soluble or injectable forms to correct deficiencies.
Generally, heterozygous carriers have normal lipid profiles and no clinical symptoms, but some may show mildly reduced LDL cholesterol; routine monitoring is usually unnecessary unless there is a family history of lipid disorders.===
Diagnosis typically involves measuring very low plasma triglycerides, cholesterol, and apolipoprotein B levels, followed by genetic testing (sequencing of the MTTP gene) to identify biallelic loss‑of‑function mutations.
Infants may present with chronic diarrhea, failure to thrive, pale or fatty stools, and fat‑soluble vitamin deficiencies (especially vitamins A, D, E, K) leading to night blindness, bleeding problems, or neurological signs such as ataxia.
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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