BBGD FISH Probe
The BBGD FISH probe is designed to hybridize to the BBGD gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SLC19A3-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-RE | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-GO | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-GR | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-AQ | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-DIG | 20 (40 μL) | 200 μL |  |
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| SLC19A3-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
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 Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
Gene Details
Gene Symbol: SLC19A3
Gene Name: Solute Carrier Family 19 Member 3
Chromosome: CHR2: 228549925-228582745
Locus: 2q36.3
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: BBGD FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: SLC19A3-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping