anti-Solute Carrier Family 4, Anion Exchanger, Member 1 (erythrocyte Membrane Protein Band 3, Diego Blood Group) Antikörper

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit SLC4A1

• solute carrier family 4 member 1 (Diego blood group) (SLC4A1) Antikörper
• solute carrier family 4 (anion exchanger), member 1 (Slc4a1) Antikörper
• solute carrier family 4 (anion exchanger), member 1a (Diego blood group) (slc4a1a) Antikörper
• Band 3 (LOC100136769) Antikörper
• erythrocyte membrane protein band 4.1 like 3 (EPB41L3) Antikörper
• Alle Gen-Bezeichnungen
• solute carrier family 4 member 1 (Diego blood group) L homeolog (slc4a1.L) Antikörper
• solute carrier family 4 member 1 (SLC4A1) Antikörper
• solute carrier family 4 member 1 (Diego blood group) (slc4a1) Antikörper
• solute carrier family 4 member 1 (Slc4a1) Antikörper

• ae1 Antikörper
• band3 Antikörper
• BB3 Antikörper
• bnd3 Antikörper
• cd233 Antikörper
• Alle Synonyme
• DI Antikörper
• EAT Antikörper
• empb3 Antikörper
• epb3 Antikörper
• FR Antikörper
• l11Jus51 Antikörper
• LOC100136769 Antikörper
• MGC80391 Antikörper
• MGC152771 Antikörper
• rta1a Antikörper
• si:dz180g5.1 Antikörper
• SLC4A1 Antikörper
• SW Antikörper
• WD Antikörper
• wd1 Antikörper
• WR Antikörper
• zgc:111889 Antikörper
• zgc:152771 Antikörper

Bezeichner auf Proteinebene für SLC4A1

Diego blood group , Froese blood group , Swann blood group , Waldner blood group , Wright blood group , anion exchange protein 1 , anion exchanger 1 , anion exchanger-1 , band 3 anion transport protein , erythrocyte membrane protein band 3 , erythroid anion exchange protein , solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) , solute carrier family 4, anion exchanger, number 1 , AE 1 , MEB3 , solute carrier family 4 member 1 , solute carrier family 4, anion exchanger, member 1 , ret , retsina , AE1/band 3 , erythroid anion exchanger 1 , Band 3 , band 4.1-like protein 3-like , solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3) , band 3 anion transport protein-like , erythroid-specific band 3 protein , erythrocyte anion transport protein , Solute carrier family 4, member 1, anion exchange protein 1 (kidney band 3)