Sodium-dependent phosphate transport protein 1
Sodium-dependent phosphate transport protein 1 (SLC17A1) is a protein that in humans is encoded by the SLC17A1 gene. This protein is a member of the solute carrier family and is primarily located in the kidney where it plays a crucial role in the reabsorption of phosphate.
Function[edit | edit source]
The SLC17A1 protein is a voltage-driven phosphate transporter that functions in renal phosphate reabsorption. It is responsible for the transport of phosphate from the renal tubule into the bloodstream, a process that is essential for maintaining normal phosphate levels in the body.
Clinical significance[edit | edit source]
Mutations in the SLC17A1 gene have been associated with hypophosphatemic rickets, a rare disorder characterized by low levels of phosphate in the blood. This can lead to weak and soft bones, a condition known as rickets in children and osteomalacia in adults.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- SLC17A1 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD
