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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 Adiponutrin ADPN Acylglycerol O-acyltransferase Calcium-independent phospholipase A2-epsilon iPLA2-epsilon Chromosome 22 open reading frame 20 C22orf20 02
Biological functions Triacylglycerol hydrolysis Lipid remodeling Lipolysis Regulation of lipid droplet metabolism
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Disease associations Non-alcoholic fatty liver disease (NAFLD) Non-alcoholic steatohepatitis (NASH) Cirrhosis Hepatocellular carcinoma Hepatitis C Alcohol-related liver disease Insulin resistance
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Safety considerations Increased risk of liver disease progression in carriers of the I148M variant Amplified effect of I148M variant by obesity and insulin resistance
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Biomarkers I148M variant (rs738409) for NAFLD risk Fasting insulin levels Insulin resistance indices Transaminases
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