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