ABHD5 : abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

The ABHD5 Gene: Unveiling the Secrets of Lipid Metabolism

Description

The ABHD5 gene holds the blueprint for a protein that serves as a molecular switch, activating an enzyme crucial for fat breakdown: adipose triglyceride lipase (ATGL). Triglycerides, the body‘s primary energy reserve, reside within specialized structures called lipid droplets. The ABHD5 protein and ATGL enzyme reside on the surface of these lipid droplets, ready to initiate the breakdown process.

Associated Diseases

Mutations in the ABHD5 gene have been linked to several metabolic disorders, including:

• Wolman disease: A rare and fatal condition characterized by severe fat accumulation in the liver and other organs.
• Cholesteryl ester storage disease (CESD): A group of disorders characterized by the accumulation of cholesteryl esters in various tissues, leading to liver dysfunction and other health issues.

Did you Know ?

• ABHD5 deficiency affects approximately 1 in 500,000 newborns worldwide.