SLC34A3

Description

The SLC34A3 gene, encodes for a protein known as sodium-dependent phosphate transporter 3 (PiT2). PiT2 plays a crucial role in the absorption of inorganic phosphate from the intestines, facilitating its distribution to the body‘s cells. This transporter protein is particularly active in the proximal tubules of the kidneys, where it contributes to the reabsorption of phosphate back into the bloodstream. Dysregulation of SLC34A3 activity can lead to various metabolic disorders, emphasizing its importance in maintaining phosphate homeostasis.

Associated Diseases

• Hypophosphatemia (low phosphate levels in the blood)
• Rickets (bone disorder in children caused by vitamin D deficiency or phosphate deficiency)
• Osteomalacia (softening of bones in adults)
• Familial hypophosphatemic rickets (FHPR) - a rare, inherited disorder characterized by low phosphate levels and bone deformities

Did you know?

Mutations in the SLC34A3 gene are responsible for a rare genetic disorder called Familial Hypophosphatemic Rickets (FHPR), where the body cannot properly absorb phosphate from the intestines.