MTTP : microsomal triglyceride transfer protein

Description

The microsomal triglyceride transfer protein (MTTP) gene plays a vital role in lipid metabolism. It provides instructions for producing the MTTP protein, which is essential for the assembly and secretion of beta-lipoproteins (lipoprotein particles that contain proteins, cholesterol, phospholipids, and triglycerides). These lipoproteins are crucial for transporting lipids in the bloodstream and providing the body with essential nutrients.

Associated Diseases

Mutations in the MTTP gene can lead to a rare genetic condition called abetalipidemia. This disorder affects the production and secretion of beta-lipoproteins, resulting in severe deficiency of cholesterol, triglycerides, and fat-soluble vitamins (vitamins E, A, and K). Abetalipidemia can lead to various health problems, including:

• Failure to thrive
• Malnutrition
• Neurological problems
• Eye disorders
• Liver disease

Did you Know ?

Approximately 1 in 1 million people worldwide are affected by abetalipidemia. This rare disorder highlights the importance of MTTP in ensuring proper lipid metabolism and overall health.