Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
PNPLA2

PNPLA2

Reviewed November 2008

What is the official name of the PNPLA2 gene?

The official name of this gene is “patatin-like phospholipase domain containing 2.”

PNPLA2 is the gene's official symbol. The PNPLA2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PNPLA2 gene?

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.

How are changes in the PNPLA2 gene related to health conditions?

neutral lipid storage disease with myopathy - caused by mutations in the PNPLA2 gene

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.

Where is the PNPLA2 gene located?

Cytogenetic Location: 11p15.5

Molecular Location on chromosome 11: base pairs 818,900 to 825,572

The PNPLA2 gene is located on the short (p) arm of chromosome 11 at position 15.5.

The PNPLA2 gene is located on the short (p) arm of chromosome 11 at position 15.5.

More precisely, the PNPLA2 gene is located from base pair 818,900 to base pair 825,572 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PNPLA2?

You and your healthcare professional may find the following resources about PNPLA2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PNPLA2 gene or gene products?

  • adipose triglyceride lipase
  • ATGL
  • desnutrin
  • FP17548
  • PLPL2_HUMAN
  • transport-secretion protein 2.2
  • triglyceride hydrolase
  • TTS2
  • TTS-2.2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PNPLA2?

breakdown ; cell ; domain ; enzyme ; gene ; hydrolase ; lipase ; lipid ; lipolysis ; protein ; secretion ; triglycerides

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: November 2008
Published: December 16, 2014