SLC19A3 Rabbit Polyclonal Antibody
Specifications
| Product Data | |
| Application | WB |
|---|---|
| Reactivity | Human |
| Antibody Host | Rabbit |
| Clonality | Polyclonal |
| Immunogen | The immunogen is a synthetic peptide directed towards the C terminal region of human SLC19A3 |
| Specificity | Expected reactivity: Human |
| Buffer | Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose. |
| Concentration | lot specific |
| Purification | Affinity purified |
| Conjugation | Unconjugated |
| Storage | For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Stability | Shelf life: one year from despatch. |
| Shipping | Blue Ice |
| Predicted Protein Size | 55 kDa |
| Gene Name | solute carrier family 19 member 3 |
| Database Link | |
| Background | 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 mental retardation, 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. |
| Synonyms | OTTHUMP00000204103; ThTr-2; THTR2 |
| Reference Data | |
| Protein Categories | Membrane Proteins |
| Protein Families | Transmembrane |
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