84-5064-98　SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)) 100ul　492138

特徴

• 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.
• Applications:Suitable for use in Western Blot.
• Other applications not tested.
• Recommended Dilution:Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.