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Slc19a3 encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Additionally we are shipping Solute Carrier Family 19, Member 3 Antibodies (33) and many more products for this protein.
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Genetic screening of SLC19A3 mutation is crucial to diagnosis autosomal recessive biotin-thiamine-responsive basal ganglia disease in asymptomatic relatives presenting with unexplained subacute encephalopathy and abnormal movements.
The direct binding and activation of SLC19A3 expression by HIF-1alpha (show HIF1A Proteins) during hypoxic stress
The mutation of SLC19A3 is related to Biotin-thiamine-responsive basal ganglia disease.
Species differences in the substrate specificity of THTR-2 between human and mouse orthologues were observed.
large genomic deletions occur in the regulatory region of SLC19A3 in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
Genetic variation in the SLC19A3 thiamine transporter at 2:228563818T/C may make a modest contribution towards the genetic susceptibility to alcohol dependence syndrome.
This study provided evidence that biotin-thiamine-responsive basal ganglia disease is the result of SLC19A2 mutation.
TM4SF4 (show TM4SF4 Proteins) interacts with hTHTR-2 and influences the physiological function of the thiamine transporter in human intestinal epithelial cells.
These studies demonstrate that the human intestinal thiamine uptake is adaptively regulated by the extracellular substrate level via transcriptional regulation of the THTR-2 system, and that SP1 (show PSG1 Proteins) transcriptional factor is involved in this regulation.
A new, severe phenotype of SLC19A3 is identified in early-infantile, lethal encephalopathy characterized by subtotal brain degeneration.
THTR-2 is required for normal uptake of thiamin in the intestine and can fulfill normal levels of uptake in conditions associated with THTR-1 (show DDA1 Proteins) dysfunction.
Pancreatic beta cells and islets take up thiamine by a regulated THTR1 (show DDA1 Proteins)/2-mediated process.
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.
solute carrier family 19, member 3
, thiamine transporter 2
, thiamine transporter 2-like
, solute carrier family 19 (sodium/hydrogen exchanger), member 3