Within the translocon, pathogenic variants involved in a human disease have so far only been identified in SEC61A1 (MIM: 609213), which encodes one of the Sec61α subunits of the translocon complex, generating an autosomal-dominant-inherited condition named tubulointerstitial kidney disease 5 (MIM: 617056), responsible for nephropathy with ID.10 Here, SEC61A1 is linked to Nephropathy.