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)
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.
Not finding the right product?
Try our 产品选型工具.
相关产品
储存分类代码
10 - Combustible liquids
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
常规特殊物品
PRRT2 mutant leads to dysfunction of glutamate signaling
International Journal of Molecular Sciences, 16(5), 9134-9151 (2015)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Nature Genetics, 43(12), 1252-1252 (2011)
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
Oncotarget, 7(26), 39184-39184 (2016)
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
我们的科学家团队拥有各种研究领域经验,包括生命科学、材料科学、化学合成、色谱、分析及许多其他领域.
联系技术服务部门