Home  >  Products  >  SLC19A3 (Human) cDNA (1ug)
SLC19A3 (Human) cDNA (1ug)

SLC19A3 (Human) cDNA (1ug)

Supplier: Aviva Systems Biology Incorporated
Star_fadedStar_fadedStar_fadedStar_fadedStar_faded
0 reviews | Write a Review Pencil
The ORF of human SLC19A3 is amplified by PCR using a high fidelity enzyme and sub-cloned into a Prokaryotic expression vector under the control of the tac promoter. The expression of the gene has been confirmed by Western blot using an anti-SLC19A3 polyclonal antibody.
Presku: ANA10499
Size: 1ug
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; BBGD; THMD2
See Full Product Listings >