LPIN1
Description
The LPIN1 gene provides instructions for making a protein called lipin-1, a crucial enzyme involved in lipid metabolism. Lipin-1 functions as a phosphatidic acid phosphatase, catalyzing the conversion of phosphatidic acid to diacylglycerol, a vital step in the synthesis of triglycerides and phospholipids. This enzyme plays a crucial role in various metabolic pathways, impacting energy storage, cell signaling, and membrane formation. LPIN1 gene mutations can lead to disruptions in lipid metabolism, contributing to several health conditions.
Associated Diseases
- Fatty liver disease (Non-alcoholic fatty liver disease, NAFLD)
- Hypertriglyceridemia (High levels of triglycerides in the blood)
- Insulin resistance
- Type 2 diabetes
- Obesity
- Cardiovascular disease
Did you know?
LPIN1 gene mutations are associated with a rare genetic disorder called ‘Berardinelli-Seip congenital lipodystrophy‘, characterized by severe fat deficiency and insulin resistance.
