Full name: |
solute carrier family 19 (thiamine transporter), member 2 |
Synonyms: |
TC1; THT1; TRMA; THMD1; THTR1 |
Swissprot: |
O60779 |
Gene Accession: |
BC018514 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
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. |