SLC19A3

gene product
THTR2
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. [provided by RefSeq, Jan 2010]
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24 antibodies from 12 providers.

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AntibodyRefsTypeWBELICCIPIHCFC
Novus Biologicals
3 antibodies
Atlas Antibodies
1 antibody
Aviva Systems Biology
2 antibodies
Abnova Corporation
1 antibody
GeneTex
1 antibody
Proteintech Group
1 antibody
Thermo Fisher Scientific Pierce
1 antibody
LifeSpan BioSciences, Inc.
2 antibodies
Abiocode, Inc.
1 antibody
United States Biological
8 antibodies
Creative Biomart
2 antibodies
Sigma-Aldrich
1 antibody