Mouse Band 3 anion transport protein (SLC4A1) ELISA Kit | SLC4A1 elisa kit
Mouse Band 3 anion transport protein (SLC4A1) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
SLC4A1: Band 3 is the major integral glycoprotein of the erythrocyte membrane. Band 3 has two functional domains. Its integral domain mediates a 1:1 exchange of inorganic anions across the membrane, whereas its cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Defects in SLC4A1 are the cause of elliptocytosis type 4 (EL4). EL4 is a Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. Defects in SLC4A1 are the cause of spherocytosis type 4 (SPH4); also known as hereditary spherocytosis type 4 (HS4). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Defects in SLC4A1 are the cause of renal tubular acidosis, distal, autosomal dominant (AD-dRTA). A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA). A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Defects in SLC4A1 are the cause of renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC). A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Belongs to the anion exchanger (TC 2.A.31) family.
Protein type: Membrane protein, multi-pass; Transporter, SLC family; Transporter; Membrane protein, integral
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: cortical cytoskeleton; basolateral plasma membrane; integral to plasma membrane; integral to membrane; plasma membrane; Z disc
Molecular Function: protein C-terminus binding; bicarbonate transmembrane transporter activity; protein binding; protein homodimerization activity; chloride transmembrane transporter activity; inorganic anion exchanger activity; protein anchor; anion:anion antiporter activity; anion transmembrane transporter activity; ankyrin binding; actin binding
Biological Process: cellular ion homeostasis; bicarbonate transport; regulation of intracellular pH; ion transport; chloride transport; transmembrane transport; anion transport
Disease: Blood Group--swann System; Renal Tubular Acidosis, Distal, Autosomal Dominant; Blood Group--froese; Blood Group--wright Antigen; Renal Tubular Acidosis, Distal, With Hemolytic Anemia; Spherocytosis, Type 4; Blood Group--diego System; Malaria, Susceptibility To; Blood Group--waldner Type
Research Articles on SLC4A1
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Product Notes
The Mouse SLC4A1 slc4a1 (Catalog #AAA7235687) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7235687 ELISA Kit recognizes Mouse SLC4A1. It is sometimes possible for the material contained within the vial of "Band 3 anion transport protein (SLC4A1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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