Anion Exchanger 1, AE1, is a membrane glycoprotein that functions as a dimer in the red blood cells (RBC) as well the kidney. It functions to exchange Cl- for HCO3- in an electroneutral manner, with the RBC AE1 having an additional function in maintaining its biconcave shape. Mutations in AE1 can cause Hereditary Spherocytosis (HS) and distal Renal Tubular Acidosis (dRTA). A mutation, C479W, has been discovered in Edmonton that caused the rare incidence of HS and dRTA in young patient who is heterozygous for C479W and G701D, a recessive dRTA mutation. Expression in MDCK cells has demonstrated that C479W AE1 is retained intracellularly, is misfolded, but can dimerize. C479W AE1s trafficking to the plasma membrane is not rescued by interaction with WT protein, or the small molecules glycerol and DMSO, or by reduced temperature. C479W AE1 also has an increased interaction with the ER chaperone protein, Calnexin.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:AEU.10048/1035 |
| Date | 06 1900 |
| Creators | Woods, Naomi |
| Contributors | Cordat, Emmanuelle (Physiology), Casey, Joe (Physiology), Alexander, Todd (Physiology), LaPointe, Paul (Cell Biology) |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Thesis |
| Format | 54865018 bytes, application/pdf |
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