SLC34A2

SLC34A2 is a gene that encodes the sodium-phosphate transport protein 2B in humans. This protein is integral to the process of phosphate regulation in the body, playing a critical role in both renal and pulmonary systems. The gene is located on chromosome 4p15.2 and consists of multiple exons that span more than 30 kilobases.

Function

The SLC34A2 gene produces a protein that functions as a sodium-dependent phosphate transporter. It is primarily expressed in the lungs and kidneys, where it facilitates the uptake of phosphate into cells. In the kidneys, this protein is involved in the reabsorption of phosphate, a critical process for maintaining the balance of phosphate and calcium in the body. In the lungs, SLC34A2 helps maintain the pulmonary surfactant, a substance crucial for proper lung function and respiratory health.

Clinical Significance

Mutations in the SLC34A2 gene have been associated with several medical conditions. One of the most notable is Pulmonary Alveolar Microlithiasis (PAM), a rare lung disease characterized by the accumulation of calcium phosphate microliths in the alveoli. Individuals with mutations in SLC34A2 experience impaired phosphate transport in the lungs, leading to the progressive calcification of the alveolar spaces.

Additionally, variations in the SLC34A2 gene have been studied in relation to kidney stone formation, particularly those composed of calcium phosphate. The gene's role in phosphate reabsorption in the kidneys makes it a candidate for influencing the risk of nephrolithiasis.

Genetic Regulation

The regulation of the SLC34A2 gene involves various transcription factors and regulatory sequences that control its expression in tissue-specific manners. Research continues to explore the complex regulatory mechanisms that modulate the activity of this gene in different tissues under various physiological and pathological conditions.

Research and Potential Therapies

Ongoing research is investigating the potential therapeutic targets within the SLC34A2 pathway for treating diseases associated with phosphate imbalance. For conditions like PAM, understanding the specific mechanisms by which SLC34A2 mutations lead to disease pathology could pave the way for targeted therapies that could mitigate or reverse the effects of these mutations.

See Also

• Genetics
• Human genome
• Renal physiology
• Pulmonary surfactant