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  • Human SLC4A1 wild-type allele is located in the vicinity of 17q21.31 and is approximately 20 kb in length. This allele, which encodes band 3 anion transport protein, is involved in elimination of carbon dioxide from tissues. Mutations in this gene are associated with both hereditary spherocytosis and distal renal tubular acidosis. Other mutations result in novel blood group antigens.
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