SLC12A3 and Gerstmann syndrome: Tutakhel et al. (2018) studied a phosphorylation site exclusively found in the C-terminal domain of hNCC, serine-811 (S811), whose phosphorylation was necessary for the phosphorylation of T55 and T60 (Figure 2A). Lastly, many amino acid residues in NCC have been studied because of their participation in Gitelman syndrome (GS) [OMIM 263800], defined as an autosomal recessive salt-wasting tubular disease caused by mutations in NCC (Gitelman et al., 1966; Cruz et al., 2001).