PLA2G6 (phospholipase A2, group VI) gene encodes a phospholipase th at catalyzes the release of fatty acids from phospholipids. The protein may function in phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release. It is also involved in leukotriene and prostaglandin synthesis. It may have a role in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. It is also involved in cardiolipin (CL) deacylation. Mutations in PLA2G6 are associated with infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and autosomal recessive early-onset dystonia-parkinsonism. Loss of PLA2G6 gene activity causes lipid peroxidation, mitochondrial dysfunction and thereby mitochondrial membrane abnormalities. It is also involved in type 1 diabetes, by participating in endoplasmic reticulum stress-induced β-cell apoptosis.
