Related diseases that arise from mutations or the overabundance of these proteins are diverse and include different types of cancer (Sec61γ, Sec62, Sec63), autosomal dominant polycystic liver disease (Sec61β, Sec63) as well as common variable immunodeficiency, neutropenia, and autosomal dominant tubulointerstitial kidney disease (Sec61α) [276,283,403,404,405,406,407,408]. The gene discussed is SEC63; the disease is autosomal dominant medullary cystic kidney disease with or without hyperuricemia.