The etiology of NPC disease resides in loss-of-function mutations in one of the two genes, Npc1 (95% of the cases) or Npc2 (5% of the cases), resulting in impaired cholesterol transport out of the lysosomes, subsequently altering the lipid metabolism, which is a critical event in the pathogenesis [2–4]. The gene discussed is NPC2; the disease is nasopharyngeal carcinoma.