MBOAT7 is a membrane-anchored acyltransferase that catalyzes the reacylation of lysophosphatidylinositol with arachidonoyl-CoA to regenerate phosphatidylinositol, a key step in phospholipid remodeling (Lands cycle) 1. This enzyme regulates free arachidonic acid levels and participates in hepatic triglyceride metabolism through phosphatidylinositol acyl-chain remodeling 1. MBOAT7 genetic variants, particularly rs641738 (C>T), reduce gene expression and are robustly associated with the entire spectrum of fatty liver disease, from simple steatosis to hepatocellular carcinoma 23. Loss-of-function variants increase susceptibility to nonalcoholic fatty liver disease (NAFLD/MAFLD), alcohol-associated liver disease, viral hepatitis-related fibrosis, and hepatocellular carcinoma risk, with individuals in the top 1% genetic risk showing 6-fold increased HCC risk 24. MBOAT7 also regulates cellular ferroptosis through phosphatidylinositol remodeling with polyunsaturated fatty acids 5. Complete loss of function causes severe neurodevelopmental disorders and neurological manifestations, underscoring phosphatidylinositol remodeling's importance for human health 1. Polygenic risk scores incorporating MBOAT7 variants improve hepatocellular carcinoma prediction independent of fibrosis stage 6.
No tissue expression data available for this gene.