Gene-specific Copy Number Variation Probe-SACS
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Catalog: |
CNVFP-SACS-17961 |
Classification: |
Copy Number Variation |
Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (SACS). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services. |
Application: |
SACS Gene-specific copy number variation probes are mainly used to detect the copy number variation related to SACS genes. This product achieves the purpose of detection by hybridizing with the SACS gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH. |
Category: |
Copy Number Variation |
Probe Kits Volume (µL): |
40 μL |
Quantity: |
20 Tests |
Hybridization Solution (µL): |
200 μL |
Turnaround Time: |
7-10 Business Days |
Shipping Time: |
1-2 Day Expedited Shipping |
Storage Conditions: |
Store at -20℃ and avoid light; |
Shipping Conditions: |
-20℃ |
Gene Details
Gene Name |
Sacsin Molecular Chaperone |
Gene Summary [Provided by RefSeq] |
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 Symbol |
SACS |
Location |
13q12.12 |
Chromosome |
Chromosome13 |
Coordinates |
This gene maps to 23902964-24007841 in GRCh37 coordinates. |
Species |
Human |
Dye Colors:
OR
RE
GO
GR
AQ
Order Sheet
Number |
Dye Color |
Order Name |
Absorbance Maximum |
Emission Maximum |
Add to Cart |
1 |
OR
|
CNVFP-SACS-17961-OR |
573nm |
548nm |
|
2 |
RE
|
CNVFP-SACS-17961-RE |
599nm |
580nm |
|
3 |
GO
|
CNVFP-SACS-17961-GO |
551nm |
525nm |
|
4 |
GR
|
CNVFP-SACS-17961-GR |
515nm |
491nm |
|
5 |
AQ
|
CNVFP-SACS-17961-AQ |
467nm |
418nm |
|
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