In humans, pathogenic mutations of KEOPS subunits―OSGEP (Kae1), PRPK (Bud32), TPRKB (Cgi121), LAGE3 (Pcc1) and GON7 (Gon7)―are implicated in the heterogeneous autosomal recessive Galloway–Mowat syndrome (GAMOS) that is characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly (16,18). The gene discussed is LAGE3; the disease is nephrotic syndrome.