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Human Polyclonal Slc19a3 Primary Antibody for WB - ABIN4893259
Schänzer, Döring, Ondrouschek, Goos, Garvalov, Geyer, Acker, Neubauer, Hahn: Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. in Brain pathology (Zurich, Switzerland) 2014
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
, solute carrier family 19 (sodium/hydrogen exchanger), member 3
, thiamine transporter 2-like