Sodium-dependent phosphate transport protein 2C

Sodium-dependent phosphate transport protein 2C (SLC34A3) is a protein that in humans is encoded by the SLC34A3 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 phosphate homeostasis.

Function

The SLC34A3 protein is a sodium-dependent phosphate transporter that absorbs phosphate from the urine back into the body. This process is essential for maintaining the body's phosphate balance, which is crucial for many biological processes, including bone and teeth formation, cell membrane integrity, and DNA and RNA synthesis.

Clinical significance

Mutations in the SLC34A3 gene can lead to several medical conditions. One of these is hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare disorder characterized by low levels of phosphate in the blood, rickets, and high levels of calcium in the urine. Another condition associated with SLC34A3 mutations is idiopathic infantile hypercalcemia (IIH), a rare disorder characterized by abnormally high levels of calcium in the blood.

Research

Research into the SLC34A3 gene and its associated protein is ongoing, with scientists seeking to better understand its role in phosphate homeostasis and its implications for human health. This research could potentially lead to new treatments for conditions associated with SLC34A3 mutations.

See also

• Solute carrier family
• Phosphate homeostasis
• Hereditary hypophosphatemic rickets with hypercalciuria
• Idiopathic infantile hypercalcemia