PNPLA3
PNPLA3 (patatin-like phospholipase domain containing 3, also called adiponutrin) encodes a lipid-droplet-associated enzyme expressed mainly in hepatocytes and adipocytes that regulates triglyceride hydrolysis and remodeling within lipid droplets. The common missense variant rs738409 (I148M) impairs the enzyme's lipase activity, causing triglyceride accumulation in liver cells, and is one of the strongest known genetic risk factors for non-alcoholic fatty liver disease (NAFLD) and progression to steatohepatitis and fibrosis.
Traits PNPLA3 shapes
Markers (rsIDs)
Reference databases
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