Mutations in NPC1 gene are responsible for up to 95% of the Niemann-Pick type C disease (OMIM 257220), a disorder characterized by massive lysosomal accumulation of cholesterol and glycosphingolipids and often manifests with progressive neurodegenerative conditions (Vance, 2006; Percival et al., 2020; Yañez et al., 2020). The gene discussed is NPC1; the disease is Niemann-Pick disease type C.