PiT2SLC20A2

PiT2SLC20A2, also known as Phosphate Transporter 2 and encoded by the SLC20A2 gene, is a protein that plays a crucial role in phosphate transport across cell membranes. It is a member of the SLC20 family of sodium-dependent phosphate transporters. This protein is expressed in various tissues, including the kidney, brain, and bone, where it is involved in regulating phosphate homeostasis.

The SLC20A2 transporter facilitates the uptake of inorganic phosphate into cells, which is essential for numerous cellular processes such as energy production (ATP synthesis), DNA and RNA synthesis, and bone mineralization. Its activity is dependent on the presence of sodium ions, indicating a co-transport mechanism. The precise regulation of PiT2 activity is vital for maintaining appropriate phosphate levels in the body.

Mutations in the SLC20A2 gene have been linked to certain genetic disorders. Specifically, biallelic inactivating mutations in SLC20A2 are a known cause of Familial Hyperphosphatemic Tumoral Calcinosis (HFTC). HFTC is a rare autosomal recessive disorder characterized by ectopic calcification in soft tissues, particularly around joints, and hyperphosphatemia. These mutations impair the transporter's function, leading to altered phosphate handling and subsequent calcification. Research into PiT2SLC20A2 continues to deepen our understanding of phosphate metabolism and its implications for health and disease.