The PLA2G6 gene encodes Phospholipase A2, Group VI, an enzyme with calcium-independent phospholipase A2 activity. Phospholipases are enzymes involved in metabolizing phospholipids to release fatty acids. By carrying out its function, the PLA2G6 gene is believed to play a role in the regulation of arachidonic acid secretion, glucose-stimulated insulin secretion, glutamatergic synaptic transmission, phosphatidylcholine acyl-chain remodelling and cardiolipin biosynthetic process.
The gene is implicated in the autosomal recessive disorders Neurodegeneration with Brain Iron Accumulation 2A (NBIA2A) and Neurodegeneration with Brain Iron Accumulation 2B (NBIA2B). NBIA2A is an infantile-onset fatal disorder characterized by axonal swelling and spheroid bodies in the central nervous system, while NBIA2B is a similar milder disorder with a later onset. PLA2G6 is also associated with Parkinson Disease 14, Autosomal Recessive (PARK14), a form of adult-onset dystonia-parkinsonism.