Mutations of kidney AE1 cause distal (type 1) renal tubular acidosis, which is an inability to acidify the urine, even if the blood is too acidic. These mutations are disease causing as they cause mistargetting of the mutant<unk> <unk>  proteins so that they are retained within the cell or occasionally addressed to the wrong (i.e. apical) surface. Mutations of erythroid AE1 affecting the extracellular domains of the molecule may cause alterations in the individual's blood group, as<unk> <unk>  determines the Diego antigen system (blood group). More importantly erythroid AE1 mutations cause 15–25% of cases of hereditary spherocytosis (a disorder associated with progressive red cell membrane loss), and also cause the hereditary conditions of hereditary stomatocytosis and Southeast Asian ovalocytosis.
Band 3 anion transport protein
Sodium-chloride symporter
Cysteine-rich secretory protein
Cystic fibrosis transmembrane conductance regulator
Thiamine transporter 1
Carboxylate transporter
Sulfate transporter
Zinc transporter 8