Comparably, loss-of-function mutations have also been described for the SEC61A1 gene and could be linked to autosomal-dominant tubulo-interstitial kidney disease in humans (ADTKD)80 as well as diabetes and hepatosteatosis in mice.81 Bolar et al. investigated renal tissue samples from two families with ADTKD and identified two different missense variants of SEC61A1 (c.553A<G (p.Thr185Ala) and c.200T<G (p.Val67Gly)), whereas none of the otherwise frequently mutated genes UMOD, MUC1 and REN were altered. This evidence concerns the gene SEC61A1 and familial juvenile hyperuricemic nephropathy type 1.