Abnova™ Human SLC4A1 Partial ORF (NP_000333.1, 261 a.a. - 360 a.a.) Recombinant Protein with GST-tag at N-terminal

Beschreibung

The protein encoded by this gene is part of anion exchanger family and is expressed in erythrocyte plasma mem, where it functions as a chloride/bicarbonate exchanger involved in CO2 transport from tissues to lungs. The protein comprises 2 distinct domains. The N-terminal 40kDa domain is located in cytoplasm and acts as an attachment site for red cell skeleton by binding ankyrin. The glycosylated C-terminal memb-associated domain contains 12-14 memb spanning segments and carries out stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the memb domain binds carbonic anhydrase II. The encoded protein associates with the red cell memb protein glycophorin A which 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, lead to 2 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 results from 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.