A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.
Bernhard SchlevogtVincent SchlieperJana KraderRita SchröterThomas WagnerMatthias WeiandAndree ZibertHartmut H SchmidtCarsten BergmannPavel I NedvetskyMichael P KrahnPublished in: Liver international : official journal of the International Association for the Study of the Liver (2022)
Our data expands the allelic and clinical spectrum for SEC61A1, adding polycystic liver disease as a new and the major phenotypic trait in the family described. We further demonstrate that mutant SEC61A1 results in enhanced proteasomal degradation and impaired biosynthesis of PC2.