SLC12A3 and Gerstmann syndrome: In the great majority of cases GS is caused by mutations in the solute carrier family 12, member 3, SLC12A3 gene, which encodes the renal thiazide-sensitive sodium-chloride co-transporter NCC that is specifically expressed in the apical membrane of cells in the first part of the distal convoluted tubule (DCT) (reviewed in [9]).