The EPG5 gene encodes a protein believed to play an essential role in the autophagy pathway. Autophagy is a highly conserved lysosomal degradation pathway and is associated with cellular homeostasis, embryonic development, and muscle remodeling. Any defects in this pathway can thus have pathological consequences. This is further consolidated by animal studies; mice lacking EPG5 have been found to develop progressive neurologic symptoms with hind limb paralysis and eventual lethality.
Mutations in this gene are associated with Vici syndrome, a multisystem disorder characterized by cardiomyopathy, corpus callosum agenesis, cataracts, oculocutaneous hypopigmentation, and immune dysfunction.