Phospholipid metabolism is essential for many body processes, including helping to maintain the integrity of the cell membrane.

[14] The encoded protein may also play a role in phospholipid remodelling, arachidonic acid release, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin synthesis, Fas receptor-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells.

[8][9] It addition, it has a role in cardiolipin (CL) deacylation, and is required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods.

It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.

[9][10][16] The most severe form is called infantile neuroaxonal dystrophy (INAD), also Neurodegeneration with brain iron accumulation type 2A (NBIA2A), and is characterized by pathologic axonal swelling and spheroid bodies in the central nervous system.

Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.