|Human, Mouse, Rat|
Application Methods: Western Blotting
Background: Anion exchange protein 1 (AE1), also named solute carrier family 4 member 1 (SLC4A1), is an anion transporter that mediates chloride-bicarbonate exchange in the kidney and regulates normal acidification of the urine (1,2). A different isoform of AE1 is a major integral membrane structure protein of erythrocytes, where it plays a critical role in the removal of carbon dioxide from tissues (3). In addition, AE1 is required for normal flexibility and stability of the erythrocyte membrane. Mutations in SLC4A1 can lead to hereditary spherocytosis, ovalocytosis, and distal renal tubular-acidosis (4-7). Other mutations that do not cause disease became novel blood group antigens, which are part of the Diego blood group system (8).
Application Methods: Immunofluorescence (Immunocytochemistry), Immunoprecipitation, Western Blotting
Background: CFTR (ABC35, ABCC7, CBAVD, CF, dj760C5.1, MRP7, TNR-CFTR) is a member of the ATP-binding cassette (ABC) transporter superfamily. Mutations in ABC genes have been linked to many diseases. CFTR is a plasma membrane cyclic AMP activated chloride channel that is expressed in the epithelial cells of the lung and several other organs (1,2). It mediates the secretion of Cl- and also regulates several channels including the epithelial sodium channel (ENaC), K+ channels , ATP release mechanisms, anion exchangers, sodium bicarbonate transporters and aquaporin water channels (3,4,5,6,7,8 9,10). Mutations in the CFTR gene cause cystic fibrosis, a disease that is characterized by exocrine pancreatic insufficiency, increase in sweat gland NaCl, male infertility and airway disease (1,2,11). Intracellular trafficking regulates the number of CFTR molecules at the cell surface, which in part regulates Cl- secretion. Deletion of phenylalanine 508 (deltaF508) is the most common mutation in CF patients. This mutation results in retention in the ER, where ER quality control mechanisms target the deltaF508 mutant to the proteosome for degradation (12-14). Therefore, disruption of CFTR trafficking leads to disregulation of Cl- secretion at the plasma membrane of epithelial cells.