PNPLA2

patatin like phospholipase domain containing 2

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides, which are the main source of stored energy in cells. Triglycerides are the major component of cell structures called lipid droplets (also called adiposomes). The ATGL enzyme is found on the surface of lipid droplets. When activated, the ATGL enzyme breaks down triglycerides to provide energy for the body.

At least five mutations in the PNPLA2 gene have been found to cause neutral lipid storage disease with myopathy. Some of these mutations cause the enzyme to function abnormally. Other mutations prevent the enzyme from ever reaching lipid droplets, so it is unable to interact with triglycerides. Any disruption in the breakdown of triglycerides leads to the accumulation of these fats in muscle and other tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5

Molecular Location: base pairs 818,895 to 825,573 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5
  • adipose triglyceride lipase
  • ATGL
  • desnutrin
  • FP17548
  • patatin-like phospholipase domain containing 2
  • PLPL2_HUMAN
  • transport-secretion protein 2.2
  • triglyceride hydrolase
  • TTS-2.2
  • TTS2