AE1 antibody, BND3 antibody, CD233 antibody, DI antibody, EMPB3 antibody, EPB3 antibody, FR antibody, RTA1A antibody, SW antibody, WD antibody, WD1 antibody, WR antibody, Ae1 antibody, Empb3 antibody, l11Jus51 antibody, ae1 antibody, band3 antibody, MGC152771 antibody, zgc:111889 antibody, zgc:152771 antibody, si:dz180g5.1 antibody, LOC100136769 antibody, slc4a1 antibody, wd1 antibody, bnd3 antibody, epb3 antibody, cd233 antibody, empb3 antibody, rta1a antibody, MGC80391 antibody, SLC4A1 antibody, BB3 antibody, EAT antibody, solute carrier family 4 member 1 (Diego blood group) antibody, solute carrier family 4 (anion exchanger), member 1 antibody, solute carrier family 4 (anion exchanger), member 1a (Diego blood group) antibody, Band 3 antibody, erythrocyte membrane protein band 4.1 like 3 antibody, solute carrier family 4 member 1 (Diego blood group) L homeolog antibody, solute carrier family 4 member 1 antibody, SLC4A1 antibody, Slc4a1 antibody, slc4a1a antibody, LOC100136769 antibody, EPB41L3 antibody, slc4a1.L antibody, slc4a1 antibody
背景
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 40 kDa 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.One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis.,DI,FR,SW,WD,WR,AE1,CHC,SAO,WD1,BND3,EPB3,SPH4,CD233,EMPB3,RTA1A,SLC4A1,Immunology & Inflammation,CD markers,Cardiovascular,Blood,Blood Cell Antigens,SLC4A1