Mutations on human genes encoding AAT 19, collagen α−1(II) chain (COL2A1) 20, Niemann-Pick type C1 (NPC1) 21, and dysferlin (DYSF) 22, 23 can cause their misfolding in the ER, leading to degradation by ERQC and various genetic diseases. The gene discussed is NPC1; the disease is hereditary disease.