Several mutations in the human AE1 gene cause erythrocyte abnormalities (Table 1), such as spherostomatocytosis and spherocytosis and/or distal renal tubular acidosis (dRTA; Maillet et al., 1995; Bruce et al., 1997, 2000, 2005; Reithmeier et al., 2016). The gene discussed is SLC4A1; the disease is distal renal tubular acidosis.