Thiamine transporter 2

Thiamine transporter 2 (SLC19A3) is a protein that in humans is encoded by the SLC19A3 gene. It is a member of the SLC19 family of solute carrier proteins, which are responsible for the transport of various substances across cellular membranes.

Function

Thiamine transporter 2 is a high-affinity thiamine transporter that is involved in the uptake of thiamine (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, the functioning of the nervous system, and the synthesis of nucleic acids.

Structure

The SLC19A3 gene is located on the short (p) arm of chromosome 2 at position 23. The protein encoded by this gene is a transmembrane protein that is approximately 500 amino acids in length. It has 12 transmembrane domains, with the N- and C-termini located on the intracellular side of the membrane.

Clinical significance

Mutations in the SLC19A3 gene can lead to a variety of medical conditions. These include biotin-responsive basal ganglia disease, a rare disorder characterized by progressive neurological impairment, and Wernicke's encephalopathy, a serious neurological disorder caused by thiamine deficiency.

See also

• Solute carrier family
• Thiamine
• Biotin-responsive basal ganglia disease
• Wernicke's encephalopathy