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Full name: |
solute carrier family 19 (thiamine transporter), member 2 |
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Synonyms: |
TC1; THT1; TRMA; THMD1; THTR1 |
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Swissprot: |
O60779 |
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Gene Accession: |
BC018514 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
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021-54845833/15800441009
