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SLC19A2

Official Full Name
solute carrier family 19 member 2
Organism
Homo sapiens
GeneID
10560
Background
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Synonyms
TC1; THT1; TRMA; THMD1; THTR1;

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