A230052M14 FISH Probe
The A230052M14 FISH probe is designed to hybridize to the A230052M14 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 |
|---|---|---|---|---|
| SACS-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| SACS-20-RE | 20 (40 μL) | 200 μL |  |
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| SACS-20-GO | 20 (40 μL) | 200 μL |  |
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| SACS-20-GR | 20 (40 μL) | 200 μL |  |
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| SACS-20-AQ | 20 (40 μL) | 200 μL |  |
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| SACS-20-DIG | 20 (40 μL) | 200 μL |  |
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| SACS-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Details
Gene Symbol: SACS
Gene Name: Sacsin Molecular Chaperone
Chromosome: CHR13: 23902964-24007841
Locus: 13q12.12
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: A230052M14 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: SACS-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping