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.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by affinity chromatography.
Form：Supplied as a liquid in PBS, 2% sucrose, 0.09% sodium azide.
Specificity：Recognizes human SLC19A3.
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to the C-terminal region of human SLC19A3
