SLC19A3 Protein Lysate (GST tagged) (Expressed in bacteria) (200ug)

Supplier: Aviva Systems Biology Incorporated

0 reviews | Write a Review Pencil

Partial length SLC19A3 is expressed in E. coli.

Presku:	APL10499
Size:	200ug
Weight:	43
Gene:	80704
Target:	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.
Alternative names:	THTR2; SLC19A3; BBGD; THMD2