SLC34A1 encodes the 69 kDa sodium-dependent phosphate transport protein 2A (Npt2a). SLC34A is a member of the type II sodium-phosphate co-transporter family, along with SLC34A3 which encodes Npt2c. These proteins are abundantly expressed along the proximal tubules of the kidneys where most of the filtered inorganic phosphate (Pi) is reabsorbed into the body. Renal reabsorption of Pi directly regulates blood phosphate levels, important for many metabolic processes. While SLC34A1 expression is largely confined to the kidney, it has been identified in tissues from lungs, testes, fallopian tubes, skeletal muscle, and cardiac myocytes. Its role in each of these tissues is yet to be fully characterized.
SLC34A1 mutations have been linked to hypophosphatemia which is characterized by bone demineralization and osteoporosis due to low levels of phosphate in the blood (1). Renal phosphate loss may also lead to the formation of calcium stones /nephrolithiasis (2). Due to the interdependence of electrolyte transport, mutations in SLC34A1 can also cause severe hypercalcemia in affected individuals (3). Recent work has focused on elucidating the structure of SLC34A1 and identifying mutations that predispose individuals to these life-threatening electrolyte imbalances. Fenollar-Ferrer et al. 2015 documented the first report identifying one of the sodium binding sites of the SLC34A1 co-transporter (4). Understanding the structure, selectivity, and kinetics of the SLC34A1 transporter will help to identify significant mutations and begin to characterize each one. There is much left to be understood about the specific role of SLC34A1 in various pathologies.
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