DYT5 FISH Probe
The DYT5 FISH probe is designed to hybridize to the DYT5 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 |
|---|---|---|---|---|
| GCH1-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| GCH1-20-RE | 20 (40 μL) | 200 μL |  |
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| GCH1-20-GO | 20 (40 μL) | 200 μL |  |
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| GCH1-20-GR | 20 (40 μL) | 200 μL |  |
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| GCH1-20-AQ | 20 (40 μL) | 200 μL |  |
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| GCH1-20-DIG | 20 (40 μL) | 200 μL |  |
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| GCH1-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
Gene Details
Gene Symbol: GCH1
Gene Name: GTP Cyclohydrolase 1
Chromosome: CHR14: 55308723-55369542
Locus: 14q22.2
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: DYT5 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: GCH1-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping