Thiamine Transporter Protein 1 (THTR1)

Thiamine-responsive megaloblastic anemia syndrome (TRMA), is an early-onset, autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment.The SLC19A2 gene encodes a protein of 497 amino acids predicted to have 12 transmembrane domains. Northern blot analysis detected a 4-kb transcript in all tissues tested, most abundantly in skeletal and cardiac muscle. Labay et al. (1999) identified the SLC19A2 gene by positional cloning. They assembled a P1-derived artificial chromosome (PAC) contig spanning the TRMA candidate region. This clarified the order of genetic markers across the TRMA locus, provided 9 new polymorphic markers, and narrowed the locus to an approximately 400-kb region.