ATXN2 Knockout cell line (AC16)

Catalog Number: KOA13812

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Specifications

Product Information
Product Name	ATXN2 Knockout cell line (AC16)
specification	1*10^6
Storage and transportation	Shipped on dry ice; Store in liquid nitrogen
Cell morphology	Fibroblast-like, adherent
Passage ratio	1：3-1：4
species	Human
Gene	ATXN2
Gene ID	6311
Build method	Electroporation/Lentivirus
Mycoplasma testing	negative
Cultivation system	90% DMEM/F12+10% FBS
Parental Cell Line	AC16
Quality Control	Genotype: ATXN2 Knockout cell line (AC16)>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	ataxin 2provided by HGNC
Also known as	ATX2; SCA2; TNRC13
Gene Description	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Expression	Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 9.4) and 25 other tissues See more

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