SLC19A3 / Unconjugated /

Product Details
Description Rabbit polyclonal antibody to SLC19A3
Conjugate Unconjugated
Clone
Target Species Human
Applications ELISA, IF, ICC, WB
Supplier Biorbyt
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About SLC19A3
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]
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113 SLC19A3 antibodies from over 11 suppliers available with over 34 conjugates.

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