SLC24A4

SLC24A4 is a gene that encodes a protein belonging to the solute carrier family 24, member 4. This protein is a sodium-dependent inorganic phosphate transporter, which plays a crucial role in the absorption of inorganic phosphate from the intestinal lumen into the bloodstream. The SLC24A4 gene is located on chromosome 19q13.3 in humans.

Mutations in the SLC24A4 gene have been associated with several genetic disorders, including X-linked hypophosphatemia (XLH) and autosomal dominant hypophosphatemic rickets (ADHR). XLH is a rare inherited disorder characterized by severe hypophosphatemia, which can lead to rickets, osteomalacia, and other bone abnormalities. ADHR is a less severe form of the disorder, typically presenting with mild hypophosphatemia and rickets.

The SLC24A4 protein is expressed primarily in the intestinal epithelium, where it facilitates the reabsorption of inorganic phosphate. This process is essential for maintaining normal phosphate levels in the body, which are crucial for various physiological functions, including bone health, energy metabolism, and cellular signaling.

Research on SLC24A4 and its associated disorders continues to advance, with ongoing studies aimed at understanding the molecular mechanisms underlying these conditions and developing potential therapeutic strategies.