SLC4A1
SLC4A1 (Solute Carrier Family 4 Member 1) is a protein that in humans is encoded by the SLC4A1 gene. It is a member of the solute carrier family and its primary function is to maintain proper levels of carbon dioxide (CO2) and bicarbonate (HCO3-) in the body. This protein 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.
Function[edit | edit source]
The protein encoded by the SLC4A1 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. By exchanging bicarbonate ions for chloride ions, the SLC4A1 protein plays a crucial role in maintaining the balance of carbon dioxide and bicarbonate in the body, which is vital for many physiological processes, including pH regulation and respiration.
Clinical Significance[edit | edit source]
Mutations in the SLC4A1 gene have been associated with several diseases, including Hereditary Spherocytosis and Southeast Asian Ovalocytosis. These conditions are characterized by anemia, jaundice, and an enlarged spleen. In addition, the SLC4A1 gene has been implicated in the development of Renal Tubular Acidosis and Band 3 Deficiency.
See Also[edit | edit source]
- Solute carrier family
- Anion exchanger 1
- Hereditary Spherocytosis
- Southeast Asian Ovalocytosis
- Renal Tubular Acidosis
- Band 3 Deficiency
References[edit | edit source]
| SLC4A1 Resources | |
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