 Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.The "SLC19A2" gene is located on the q arm of chromosome 1 in position 24.2 and spans 22,062 base pairs.The gene produces a 55.4 kDa protein composed of 497 amino acids.