SLC19A3

solute carrier family 19 (thiamine transporter), member 3

SLC19A3 is 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.

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Proteins (4)

Type

Over-Expression Lysate (2)

Recombinant (2)

Target

SLC19A3 (4)

Publications

No (4)

Tag

GST, N-terminus (1)

Myc-DDK (Flag) (3)

Species

Human (3)

Source

293T Cells (1)

HEK 293 Cells (2)

Wheat Germ Extract (1)

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SLC19A3 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G109495

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

55.5 kDa

Price:

100 µg/$494

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Human SLC19A3 Protein (Recombinant Myc-DDK (Flag)) (Full Length) - LS-G72301

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

55.5 kDa

Price:

20 µg/$1,107

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Human SLC19A3 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G91947

Source:

293T Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

55.5 kDa

Price:

20 µg/$150

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Human SLC19A3 Protein (Recombinant GST, N-terminus) (aa191-277) - LS-G63252

Source:

Wheat Germ Extract

Tag:

GST, N-terminus

Price:

10 µg/$479; 25 µg/$670

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