Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Component of the ankyrin-1 complex of the erythrocyte membrane; require...[+]

Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.; Anion exchange protein [-]

             hereditary spherocytosis
             renal tubular acidosis

          MALARIA, SUSCEPTIBILITY TO
          SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1
          BLOOD GROUP, DIEGO SYSTEM; DI
          BLOOD GROUP--FROESE
          BLOOD GROUP--SWANN SYSTEM; SW
          BLOOD GROUP--WALDNER TYPE; WD
          BLOOD GROUP--WRIGHT ANTIGEN; WR
          RENAL TUBULAR ACIDOSIS, DISTAL, 1; DRTA1
          RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA; DRTA4
          SPHEROCYTOSIS, TYPE 4; SPH4
          OVALOCYTOSIS, SOUTHEAST ASIAN; SAO
          CRYOHYDROCYTOSIS; CHC

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD