PLA2G6 encodes a 85/88-kd calcium-independent phospholipase A2. This family of proteins may have roles in phospholipid remodeling, arachidonic acid release, leukotriene and prostaglandin synthesis, and apoptosis. Defects in the PLA2G6 protein may lead to a relative abundance of membrane phospholipids or skewing of the proportions of specific species and secondary structural abnormalities, which may contribute to the axonal pathology observed in PLAN.
PLAN is inherited in an autosomal recessive manner. Diagnostic testing approaches may include single-gene testing, gene-targeted testing with specialized panels or exome or genome sequencing depending on the phenotype.
PLA2G6