| 货号:GTX637652 | 规格:100μl | 目录价:¥4000 |
| 货号:GTX637652-S | 规格:25μl | 目录价:¥1700 |
产品详情
* 以下信息仅供参考,详情请以原厂网站为准
产品名称:
ATXN2 antibody [HL1903]
别名:
ataxin 2 , ATX2 , SCA2 , TNRC13
反应种属:
Human
宿主来源:
Rabbit
实验应用:
WB
同种型:
IgG
免疫原:
Recombinant fragment of human ATXN2
克隆性:
Monoclonal
克隆号:
HL1903
纯化方式:
Affinity purified by Protein A.
偶联:
Unconjugated
产品浓度:
1 mg/ml (Please refer to the vial label for the specific concentration.)
保存温度:
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
运输温度:
4°C
产品形式:
Liquid
存储溶液:
PBS, no preservatives.
生产商:
GeneTex
功能与背景:
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]
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