Folate transporter 1

Folate transporter 1 (also known as SLC19A1) is a protein that in humans is encoded by the SLC19A1 gene. It is a member of the solute carrier family of proteins, which are responsible for the transport of various substances across the body's cellular membranes.

Function

Folate transporter 1 is primarily responsible for the transport of folate across the cell membrane. Folate is a type of B vitamin that is needed for the formation of red and white blood cells in the bone marrow, the conversion of carbohydrates into energy, and the production of DNA and RNA.

Structure

The SLC19A1 gene is located on the long (q) arm of chromosome 21 at position 22.11. The protein encoded by this gene is a transmembrane protein that functions as a high affinity folate transporter.

Clinical significance

Mutations in the SLC19A1 gene have been associated with folate deficiency and certain types of anemia, such as megaloblastic anemia. In addition, some studies have suggested a link between variations in this gene and an increased risk of neural tube defects in newborns.

See also

• Solute carrier family
• Folate
• Chromosome 21