Mutations in the SLC4A1, ATP6V1B1, ATP6V0A4, and ATP6V1C2 genes, which encode the AE1 protein, the B1 subunit of H + -ATPase, the A4 subunit of H + -ATPase, and the C2 subunit of V-type H + -ATPase, respectively, disrupt hydrogen ion secretion and are associated with the development of dRTA (Supplementary Table S1) (6, 14–16). Here, ATP6V1B1 is linked to distal renal tubular acidosis.