SLC20A1

SLC20A1 is a gene that encodes the protein known as solute carrier family 20 member 1. This protein is a member of the solute carrier family, which is a large group of proteins that are responsible for the transport of a wide variety of substances across biological membranes. The SLC20A1 protein is also known as phosphate transporter 1 (PiT1) and is involved in the cellular uptake of inorganic phosphate.

Function

The protein encoded by the SLC20A1 gene is a sodium-dependent phosphate transporter. It transports phosphate ions from the extracellular environment into the cell where they can be used in a variety of cellular processes. This protein is expressed in a wide variety of tissues, including the kidney, liver, and brain.

Clinical Significance

Mutations in the SLC20A1 gene have been associated with a variety of medical conditions. For example, some studies have suggested a link between variations in this gene and susceptibility to hypophosphatemia, a condition characterized by low levels of phosphate in the blood. Additionally, mutations in this gene have been implicated in some cases of Pulmonary Alveolar Microlithiasis (PAM), a rare lung disease.

Research

Research into the SLC20A1 gene and its associated protein is ongoing. Scientists are particularly interested in understanding the role of this gene in phosphate homeostasis and how mutations in this gene may contribute to disease.

File:SLC20A1 gene location on human chromosome 2.png

Location of the SLC20A1 gene on human chromosome 2.

See Also

• Solute carrier family
• Phosphate homeostasis
• Hypophosphatemia
• Pulmonary Alveolar Microlithiasis