AE1 antikoerper, BND3 antikoerper, CD233 antikoerper, DI antikoerper, EMPB3 antikoerper, EPB3 antikoerper, FR antikoerper, RTA1A antikoerper, SW antikoerper, WD antikoerper, WD1 antikoerper, WR antikoerper, Ae1 antikoerper, Empb3 antikoerper, l11Jus51 antikoerper, ae1 antikoerper, band3 antikoerper, MGC152771 antikoerper, zgc:111889 antikoerper, zgc:152771 antikoerper, si:dz180g5.1 antikoerper, LOC100136769 antikoerper, slc4a1 antikoerper, wd1 antikoerper, bnd3 antikoerper, epb3 antikoerper, cd233 antikoerper, empb3 antikoerper, rta1a antikoerper, MGC80391 antikoerper, SLC4A1 antikoerper, BB3 antikoerper, EAT antikoerper, solute carrier family 4 member 1 (Diego blood group) antikoerper, solute carrier family 4 (anion exchanger), member 1 antikoerper, solute carrier family 4 (anion exchanger), member 1a (Diego blood group) antikoerper, Band 3 antikoerper, erythrocyte membrane protein band 4.1 like 3 antikoerper, solute carrier family 4 member 1 (Diego blood group) L homeolog antikoerper, solute carrier family 4 member 1 antikoerper, SLC4A1 antikoerper, Slc4a1 antikoerper, slc4a1a antikoerper, LOC100136769 antikoerper, EPB41L3 antikoerper, slc4a1.L antikoerper, slc4a1 antikoerper
Hintergrund
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