Solute Carrier Family 19, Member 3 (Slc19a3) (C-Term) Peptide
Quick Overview for Solute Carrier Family 19, Member 3 (Slc19a3) (C-Term) Peptide (ABIN5512660)
Target
Origin
Source
Application
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Protein Region
- C-Term
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Sequence
- VYGSYFAVIA GIFLMRSMYI TYSTKSQKDV QSPAPSENPD VSHPEEESNI
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Characteristics
- This is a synthetic peptide designed for use in combination with anti-SLC19A3 Antibody. It may block above mentioned antibody from binding to its target protein in western blot and/or immunohistochecmistry under proper experimental settings. There is no guarantee for its use in other applications.
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Application Notes
- Optimal working dilution should be determined by the investigator.
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Restrictions
- For Research Use only
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Format
- Lyophilized
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Reconstitution
- Add 100 μL of sterile PBS. Final peptide concentration is 1 mg/mL in PBS.
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Storage
- -20 °C
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Storage Comment
- For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
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- SLC19A3 (Slc19a3) (Solute Carrier Family 19, Member 3 (Slc19a3))
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Background
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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.
Alias Symbols: BBGD, THMD2, THTR2
Protein Size: 496 -
Gene ID
- 80704
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NCBI Accession
- NM_025243, NP_079519
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UniProt
- Q9BZV2
Target
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