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PRRT2 Rabbit pAb (bs-19430R)  
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產品編號 bs-19430R
英文名稱 PRRT2 Rabbit pAb
中文名稱 富含脯氨酸跨膜蛋白2抗體
別    名 interferon induced transmembrane protein domain containing 1; BFIC2; BFIS2; Dispanin subfamily B member 3; DSPB3; DYT10; EKD1; FLJ25513; ICCA; IFITMD1; interferon induced transmembrane protein domain containing 1; PKC; Proline rich transmembrane protein 2; Proline-rich transmembrane protein 2; PRRT2; PRRT2_HUMAN.  
研究領域 細胞生物  免疫學  神經生物學  跨膜蛋白  細胞膜蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Mouse (predicted: Human,Pig,Cow,Dog,Horse)
產品應用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 35, 40 kDa
檢測分子量
細胞定位 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human PRRT2: 201-300/340 <Extracellular>
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Subcellular Location:
Cell membrane. Cell junction > synapse.

DISEASE:
Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681).
Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA)
[MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Note=The disease is caused by mutations affecting the gene represented in this entry.
Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the CD225/Dispanin family.

SWISS:
Q7Z6L0

Gene ID:
112476

Database links:

Entrez Gene: 112476 Human

Entrez Gene: 69017 Mouse

Entrez Gene: 361651 Rat

Omim: 614386 Human

SwissProt: Q7Z6L0 Human

SwissProt: E9PUL5 Mouse

SwissProt: D3ZFB6 Rat

Unigene: 655071 Human

Unigene: 392047 Mouse

Unigene: 51543 Rat



產品圖片
Sample: Brain (Mouse) Lysate at 40 ug Primary: Anti-PRRT2 (bs-19430R) at 1/300 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 35 kD Observed band size: 35 kD
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