SLC19A3 (NM_025243) Human Mass Spec Standard
Specifications
| Product Data | |
| Tag | C-Myc/DDK |
|---|---|
| Species | Human |
| Expression Host | HEK293 |
| Expression cDNA Clone or AA Sequence | RC206409 |
| Predicted MW | 55.7 kDa |
| Protein Sequence | |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Concentration | >0.05 µg/µL as determined by microplate BCA method |
| Labeling Method | Labeled with U- 13C6, 15N4-L-Arginine and U- 13C6, 15N2-L-Lysine |
| Buffer | 25 mM Tris-HCl, 100 mM glycine, pH 7.3 |
| Storage | Store at -80°C. Avoid repeated freeze-thaw cycles. |
| Stability | Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Shipping | Dry Ice |
| Reference Data | |
| RefSeq | NP_079519 |
| RefSeq Size | 3775 |
| RefSeq ORF | 1488 |
| Synonyms | BBGD; THMD2; thTr-2; THTR2 |
| Locus ID | 80704 |
| UniProt ID | Q9BZV2 |
| Cytogenetics | 2q36.3 |
| Summary | This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.provided by RefSeq, Jan 2010 |
| Protein Families | Transmembrane |
Reviews
Documents
| FAQs |
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Resources
| Recombinant Protein Resources |
Other "SLC19A3" proteins (3)
| SKU | Description | Size | Price | |
|---|---|---|---|---|
| LC410805 | Lyophilized SLC19A3 HEK293T cell transient overexpression lysate (as WB positive control) | 20 ug |
$206.00
|
|
| LY410805 | Transient overexpression lysate of solute carrier family 19, member 3 (SLC19A3) (as WB positive control) | 100 ug |
$436.00
|
|
| TP306409 | Recombinant protein of human solute carrier family 19, member 3 (SLC19A3), 20 µg | 20 ug |
$867.00
|
|
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