PNPLA1


Description

The PNPLA1 gene, encodes for the enzyme patatin-like phospholipase domain-containing protein 1 (PNPLA1), also known as adipose triglyceride lipase (ATGL). This enzyme plays a crucial role in the breakdown of triglycerides (fats) stored in fat cells (adipocytes) and other tissues. ATGL is the rate-limiting enzyme in lipolysis, a process that releases fatty acids into the bloodstream for energy production. Its activity is regulated by various factors, including hormones, nutrients, and cellular signaling pathways. PNPLA1 mutations can lead to a range of metabolic disorders.

Associated Diseases

Did you know?

PNPLA1 was first discovered in 1995, and its role in lipolysis wasn‘t fully understood until 2008. Since then, extensive research has focused on the connection between ATGL function and various metabolic disorders.


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