Chloride anion exchanger
Chloride anion exchanger is a type of protein that facilitates the transport of chloride ions across the cell membrane. This process is essential for maintaining the proper balance of ions within the cell, which is crucial for many cellular functions, including the regulation of pH and cell volume.
Function
The primary function of the chloride anion exchanger is to transport chloride ions from one side of the cell membrane to the other. This process is driven by the electrochemical gradient of the ions, which is established by the difference in ion concentrations between the inside and outside of the cell.
The chloride anion exchanger is part of a larger family of proteins known as the solute carrier family, specifically the SLC4 and SLC26 families. These proteins are responsible for the transport of various solutes across the cell membrane, including bicarbonate, sulfate, and iodide ions, in addition to chloride.
Clinical significance
Mutations in the genes encoding chloride anion exchangers can lead to a variety of medical conditions. For example, mutations in the SLC4A1 gene, which encodes a chloride/bicarbonate exchanger, can cause hereditary spherocytosis, a condition characterized by anemia, jaundice, and an enlarged spleen.
Similarly, mutations in the SLC26A3 gene, which encodes a chloride/iodide exchanger, can cause congenital chloride diarrhea, a severe form of diarrhea characterized by the loss of large amounts of chloride in the stool.
See also
References
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Contributors: Prab R. Tumpati, MD