Pathogenic variants in the B1 and a4 subunits of H+-ATPase (ATP6V1B1, ATP6V0A4) and in AE1 (SLC4A1) have been identified as the cause of distal renal tubular acidosis (dRTA) almost two decades ago [62]. The gene discussed is ATP6V1B1; the disease is distal renal tubular acidosis.