Entrez gene ID | | 10560 |
Official gene symbol | | SLC19A2 |
Full name | | solute carrier family 19 (thiamine transporter), member 2 |
Aliases | | ,TC1,THT1,THTR1,TRMA, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1q23.3 |
Gene position | | 169455208 - 169433147 Map Viewer |
Gene orientation | | minus |
Gene size | | 22062 bp |
Gene sequence |
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OMIM ID | | 603941 |
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