Literature associating SLC4A1 and autosomal recessive osteopetrosis 7
Solute carrier family 4 (anion exchanger), member 1 (Diego blood group); Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein 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; Belongs to the anion exchanger (TC 2.A.31) family.
Synonyms: SLC4A1, SLC4A1p, hSLC4A1, E2J824, E2RVJ0 ...