SLC19A2

Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a is_associated_with::protein that in humans is encoded by the SLC19A2 is_associated_with::gene. SLC19A2 is a is_associated_with::thiamine transporter.

In melanocytic cells SLC19A2 gene expression may be regulated by MITF.

Clinical significance
Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by is_associated_with::diabetes mellitus, is_associated_with::megaloblastic anemia and sensorineural deafness.