AE 1 Rabbit Polyclonal Antibody (HA500323)

UNIPROT #

P02730

PROTEIN NAME

AE 1

SYNONYMS

AE 1 antibody;AE1 antibody;Anion exchange protein 1 antibody;Anion exchanger 1 antibody;B3AT_HUMAN antibody;Band 3 anion transport protein antibody;Band 3 antibody;BND3 antibody;CD233 antibody;DI antibody;Diego blood group antibody;EMPB3 antibody;EPB3 antibody;Erythrocyte membrane protein band 3 antibody;Erythroid anion exchange protein antibody;FR antibody;Froese blood group antibody;RTA1A antibody;SLC4A1 antibody;Solute carrier family 4 anion exchanger member 1 antibody;Solute carrier family 4 member 1 antibody;SW antibody;Swann blood group antibody;Waldner blood group antibody;WD antibody;WD1 antibody;WR antibody;Wright blood group antibody

SUBCELLULAR LOCATION

Cell membrane, Basolateral cell membrane.

FUNCTION

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis.