SLC19A3 Antibody (PACO12246)
- SKU:
- PACO12246
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- WB
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | SLC19A3 Antibody (PACO12246) |
| Antibody SKU: | PACO12246 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, WB |
| Recommended Dilutions: | |
| Species Reactivity: | Human, Mouse |
| Immunogen: | Human SLC19A3 |
| Form: | Liquid |
| Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| Purification Method: | Antigen Affinity Purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
| Synonyms: | solute carrier family 19, member 3;SLC19A3;THTR2 ; |
| UniProt Protein Function: | Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. |
| NCBI 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] |
| UniProt Code: | Q9BZV2 |
| NCBI GenInfo Identifier: | 13376856 |
| NCBI Gene ID: | 80704 |
| NCBI Accession: | NP_079519.1 |
| UniProt Related Accession: | Q9BZV2 |
| Molecular Weight: | 55,665 Da |
| NCBI Full Name: | thiamine transporter 2 |
| NCBI Synonym Full Names: | solute carrier family 19 member 3 |
| NCBI Official Symbol: | SLC19A3 |
| NCBI Official Synonym Symbols: | BBGD; THMD2; THTR2 |
| NCBI Protein Information: | thiamine transporter 2 |
| UniProt Protein Name: | Thiamine transporter 2 |
| UniProt Synonym Protein Names: | Solute carrier family 19 member 3 |
| Protein Family: | Thiamine transporter |
| UniProt Gene Name: | SLC19A3 |
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