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Official Full Name: solute carrier family 19 member 2
Also known as: TC1; THT1; TRMA; THMD1; THTR1
This gene encodes a thiamine transporter. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia, and sensorineural deafness. Two transcript variants of this gene have been found to encode different isoforms.