AGPAT3

---

AGPAT3: A Gene with Essential Roles in Lipid Metabolism and Disease Pathogenesis

Description

Acyl-CoA:glycerol-3-phosphate acyltransferase 3 (AGPAT3) is a key enzyme involved in the biosynthesis of triglycerides, the major form of fat storage in the body. AGPAT3 catalyzes the transfer of a fatty acid from acyl-CoA to glycerol-3-phosphate, forming lysophosphatidic acid. This reaction is the first committed step in the synthesis of triglycerides, which play a crucial role in energy storage, cell signaling, and membrane structure.

Associated Diseases

Mutations in the AGPAT3 gene have been linked to several human diseases, including:

• Chanarin-Dorfman Syndrome: A rare genetic disorder characterized by neutral lipid storage disease and ichthyosis, a skin condition involving dry, scaly skin.

• Lipid Droplet Storage Disease: A disorder characterized by the accumulation of lipid droplets in various tissues, leading to liver enlargement, fat accumulation in the heart, and other complications.

• Lipodystrophy: A condition characterized by the loss of body fat, resulting in an abnormal distribution of fat or its complete absence.

• Obesity: Studies have suggested a potential role for AGPAT3 in the development of obesity and insulin resistance.

Did you Know ?

• AGPAT3 deficiency is estimated to affect approximately 1 in 100,000 individuals worldwide.