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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SLC19A2-20-RE | 20 (40 μL) | 200 μL |  |
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| SLC19A2-20-OR | 20 (40 μL) | 200 μL |  |
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| SLC19A2-20-GO | 20 (40 μL) | 200 μL |  |
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| SLC19A2-20-GR | 20 (40 μL) | 200 μL |  |
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| SLC19A2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SLC19A2
Gene Name : Solute carrier family 19 member 2
Chromosome : CHR 1: 169,485,969-169,463,908
Locus : 1q24.2
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