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安全信息

SAB3500863

Sigma-Aldrich

Anti-PRRT2 antibody produced in rabbit

affinity isolated antibody, buffered aqueous solution

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About This Item

UNSPSC代码:
12352203
NACRES:
NA.41

生物来源

rabbit

质量水平

偶联物

unconjugated

抗体形式

affinity isolated antibody

抗体产品类型

primary antibodies

克隆

polyclonal

形式

buffered aqueous solution

分子量

predicted mol wt 43 kDa

种属反应性

rat, mouse, human

技术

ELISA: suitable
immunofluorescence: suitable
immunohistochemistry: suitable
western blot: suitable

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 ... PRRT2(112476)

相关类别

一般描述

Proline-rich transmembrane protein 2 (PRRT2) has two transmembrane domains. PRRT2 is highly expressed in nervous system and spinal cord and less expressed in heart, lung, kidney and skin. In human chromosome, the gene PRRT2 is localized on 16p11.2.

生化/生理作用

Prrt2 is found in the pre- and post- synaptic membranes and is associated with Synaptosomal nerve-associated protein 25 (SNAP25). Prrt2 promotes neurotransmitter release and glutamine signalling. Mutations in PRRT2 impairs glutamine release. Mutations in PRRT2 leads to delay in neuronal migration and synaptic loss. Truncating mutations in PRRT2 causes paroxysmal kinesigenic dyskinesia. Mutations in PRRT2 also causes epilepsy and mental retardation. Mutation of PRRT2 in children causes infantile convulsions and choreoathetosis (ICCA) syndrome and in adolescent leads to onset-movement disorder.

特点和优势

Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.

联系

The action of this antibody can be blocked using blocking peptide SBP3500863.

外形

Supplied at 1 mg/mL in PBS with 0.02% sodium azide.

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.

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价格

储存分类代码

10 - Combustible liquids

闪点(°F)

Not applicable

闪点(°C)

Not applicable

法规信息

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PRRT2 mutant leads to dysfunction of glutamate signaling
Li M, et al.
International Journal of Molecular Sciences, 16(5), 9134-9151 (2015)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Chen WJ, et al.
Nature Genetics, 43(12), 1252-1252 (2011)
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
Liu YT, et al.
Oncotarget, 7(26), 39184-39184 (2016)
Sarah E Heron et al.
American journal of human genetics, 90(1), 152-160 (2012-01-17)
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE

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