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安全信息

SAB1401345

Sigma-Aldrich

Anti-RS1 antibody produced in mouse

purified immunoglobulin, buffered aqueous solution

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别名:
RS, XLRS1
UNSPSC代码:
12352203
NACRES:
NA.41

生物来源

mouse

质量水平

偶联物

unconjugated

抗体形式

purified immunoglobulin

抗体产品类型

primary antibodies

克隆

polyclonal

形式

buffered aqueous solution

种属反应性

human

技术

western blot: 1 μg/mL

NCBI登记号

UniProt登记号

运输

dry ice

储存温度

−20°C

靶向翻译后修饰

unmodified

基因信息

human ... RS1(6247)

一般描述

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. (provided by RefSeq)

免疫原

RS1 (AAI41639.1, 1 a.a. ~ 224 a.a) full-length human protein.

Sequence
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

生化/生理作用

RS1 (retinoschisin 1) is responsible for maintaining the structure of retina. Mutations in the gene cause X-Linked retinoschisis, which results in loss of vision.

外形

Solution in phosphate buffered saline, pH 7.4

免责声明

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

闪点(°F)

Not applicable

闪点(°C)

Not applicable

法规信息

常规特殊物品

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Novel mutations of the RS1 gene in a cohort Chinese families with X-linked retinoschisis.
Chen J, et.al.
Molecular Vision, 20, 132-139 (2014)
Dario Marangoni et al.
Molecular therapy. Methods & clinical development, 5, 16011-16011 (2016-09-15)
X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men. Our therapeutic approach for XLRS is based on
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Ramsay EP
Human Molecular Genetics, 25(24), 5311-5320 (2016)

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