Thiamine transporter 1

Thiamine transporter 1 (THTR1), also known as SLC19A2, is a protein that in humans is encoded by the SLC19A2 gene. It is a member of the solute carrier family of proteins, specifically the SLC19 family, which are responsible for the transport of various substances across the cell membrane.

Function

Thiamine transporter 1 is responsible for the uptake of thiamine, or vitamin B1, into cells. Thiamine is an essential nutrient that must be obtained from the diet. It is involved in numerous cellular processes, including energy metabolism and the synthesis of nucleic acids.

Clinical significance

Mutations in the SLC19A2 gene can lead to Thiamine-responsive megaloblastic anemia syndrome (TRMA), a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients with TRMA have a reduced ability to transport thiamine into cells, leading to thiamine deficiency.

Structure

The SLC19A2 gene is located on the long (q) arm of chromosome 1 at position 23.3. The protein encoded by this gene is a transmembrane protein with 12 transmembrane domains. It is expressed in many tissues, with the highest expression in the intestine and liver.

See also

• Solute carrier family
• Thiamine
• Thiamine-responsive megaloblastic anemia syndrome

References

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