SACS Knockout cell line (HCT 116)

Catalog Number: KO28147

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Specifications

Product Information
Product Name	SACS Knockout cell line (HCT 116)
specification	1*10^6
Storage and transportation	Dry ice preservation/T25 live cell transportation.
Cell morphology	Epithelioid, adherent cell
Passage ratio	1:2~1:4
species	Human
Gene	SACS
Gene ID	26278
Build method	Electric rotation method / virus method
Mycoplasma testing	Negative
Cultivation system	90%McCOYs 5A+10% FBS
Parental Cell Line	HCT 116
Quality Control	Genotype: SACS Knockout cell line (HCT 116) >95% viability before freezing. All cells were tested and found to be free of bacterial, viruses,mycoplasma and other toxins.

Gene Information
Gene Official Full Name	sacsin molecular chaperoneprovided by HGNC
Also known as	SPAX6; ARSACS; DNAJC29; PPP1R138
Gene Description	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]
Expression	Ubiquitous expression in brain (RPKM 7.1), appendix (RPKM 2.8) and 23 other tissues See more

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