SLC19A3 antibody, Internal

GeneTex

SLC19A3 antibody, Internal

9

WB: 0.2-2.5 ug/ml. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.

Western Blot

Research Use Only

Polyclonal

0.5-1 mg/ml

Unconjugated

SLC19A3

solute carrier family 19 member 3

BBGD; solute carrier family 19 (thiamine transporter), member 3; thiamine transporter 2; THMD2; THTR2; thTr-2

Rabbit

IgG

Thiamine transporter 2

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 Wernickes-like encephalopathy.[provided by RefSeq, Jan 2010]

Human

-20°C or -80°C,2°C to 8°C

12352203