Gene:  SLC19A3, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target

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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.[provided by RefSeq Jan 2010]

PrimePCR™ SYBR® Green Assay: SLC19A3, Human
solute carrier family 19, member 3

Assay Type: SYBR® Green
Assay Design: Exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0001424
List Price:    $142.00
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PrimePCR™ SYBR® Green Assay: SLC19A3, Human
solute carrier family 19, member 3

Assay Type: SYBR® Green
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0057079
Info:   Same primer pair as used in probe assay qHsaCEP0058184
List Price:    $142.00
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PrimePCR™ Probe Assay: SLC19A3, Human
solute carrier family 19, member 3

Assay Type: Probe
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0058184
List Price:    $208.00
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