Target intelligence / Profile preview

Patatin-like Phospholipase Domain-Containing Protein 3 (PNPLA3)

Target
PNPLA3
Molecular classification
Enzyme, Phospholipase, Acyltransferase, Lipase, Patatin-like phospholipase
01

Overview

PNPLA3 encodes a multifunctional enzyme involved in triacylglycerol hydrolysis and lipid remodeling within cells, particularly in the liver and fat tissue. The I148M variant is strongly associated with increased risk for NAFLD and progression to more severe liver diseases. Expression is regulated by nutritional status.

Other names
AdiponutrinADPNAcylglycerol O-acyltransferaseCalcium-independent phospholipase A2-epsiloniPLA2-epsilonChromosome 22 open reading frame 20C22orf20
02

Biological functions

Triacylglycerol hydrolysisLipid remodelingLipolysisRegulation of lipid droplet metabolism
03

Disease associations

Non-alcoholic fatty liver disease (NAFLD)Non-alcoholic steatohepatitis (NASH)CirrhosisHepatocellular carcinomaHepatitis CAlcohol-related liver diseaseInsulin resistance
04

Safety considerations

Increased risk of liver disease progression in carriers of the I148M variantAmplified effect of I148M variant by obesity and insulin resistance
05

Biomarkers

I148M variant (rs738409) for NAFLD riskFasting insulin levelsInsulin resistance indicesTransaminases

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