PNPLA3 gene: MedlinePlus Genetics

Normal Function

The PNPLA3 gene provides instructions for making an enzyme that is found in fat cells (adipocytes) and liver cells (hepatocytes). The liver is part of the digestive system, and it helps break down food, store energy, and remove waste products. The PNPLA3 enzyme is thought to help regulate the development of adipocytes and the production and breakdown of fats (lipogenesis and lipolysis) in adipocytes and hepatocytes. Studies indicate that the activity (expression) of the PNPLA3 gene decreases during periods without food (fasting) and increases after eating, suggesting that the PNPLA3 enzyme is produced as needed to help store or break down fats in the liver.

Health Conditions Related to Genetic Changes

Metabolic dysfunction-associated steatotic liver disease

A particular change in the PNPLA3 gene has been associated with an increased risk of developing a condition called metabolic dysfunction-associated steatotic liver disease (MASLD). Genetic changes that increase the risk of disease are called pathogenic variants. In people with MASLD, fat can build up in the liver and cause liver damage.

The PNPLA3 gene variant that is associated with MASLD leads to the substitution of the protein building block (amino acid) isoleucine for the amino acid methionine at protein position 148, written as Ile148Met or I148M. Research suggests that the altered enzyme has decreased activity, resulting in a buildup of fats in the liver. Having this altered PNPLA3 enzyme also increases the risk of inflammation of the liver (metabolic dysfunction-associated steatohepatitis, also known as MASH), permanent liver damage (cirrhosis), and liver cancer (hepatocellular carcinoma) in people with MASLD. Ongoing research will show how this change in PNPLA3 and other genetic changes contribute to the development of MASLD and its complications.

More About This Health Condition

Other disorders

The I148M change in the PNPLA3 enzyme has also been associated with the worsening of other liver diseases, such as a viral infection called hepatitis C. The variant also increases the risk of liver damage in people with alcohol use disorder. The mechanism of this effect is not well understood, but the altered PMPLA3 enzyme appears to increase the amount of scar tissue (fibrosis) on the liver in people with these conditions.

Other Names for This Gene

acylglycerol O-acyltransferase
adiponutrin
ADPN
C22orf20
calcium-independent phospholipase A2-epsilon
patatin like phospholipase domain containing 3

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Tests of PNPLA3

Scientific Articles on PubMed

PubMed

Catalog of Genes and Diseases from OMIM

PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3

Gene and Variant Databases

References

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