SLC34A1

Description

The SLC34A1 gene, located on chromosome 5, encodes for the sodium-dependent phosphate transporter 1 (NaPi-1). This protein plays a crucial role in the reabsorption of phosphate from the kidneys, ensuring adequate levels of phosphate in the bloodstream. NaPi-1 is also expressed in the intestines and bone, contributing to phosphate homeostasis and bone health. Understanding the function of SLC34A1 and its regulation is essential for managing phosphate imbalances and related diseases.

Associated Diseases

• Hypophosphatemia (low phosphate levels in the blood)
• Rickets and osteomalacia (bone disorders)
• Fanconi syndrome (a disorder affecting kidney function)
• Hereditary hypophosphatemic rickets (a rare genetic disorder causing bone abnormalities)

Did you know?

Mutations in the SLC34A1 gene are responsible for a significant portion of inherited hypophosphatemia cases.