PNPLA2 : patatin like phospholipase domain containing 2

Description

The PNPLA2 gene encodes for the enzyme patatin-like phospholipase domain-containing protein 2 (PNPLA2), a critical component of lipid metabolism. It primarily functions in the hydrolysis of triglycerides, breaking them down into fatty acids and glycerol. This process is crucial for energy production, cellular signaling, and the synthesis of other essential lipids. PNPLA2 plays a significant role in various tissues, including adipose tissue, liver, and skeletal muscle, and its dysregulation is associated with several metabolic disorders.

Associated Diseases

• Nonalcoholic fatty liver disease (NAFLD)
• Obesity
• Type 2 diabetes
• Cardiovascular disease
• Metabolic syndrome
• Pancreatitis

Did you know?

Mutations in the PNPLA2 gene have been linked to a rare genetic disorder called familial partial lipodystrophy, characterized by a deficiency in subcutaneous fat.