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Rabbit Anti-PRRT2/Gold Conjugated antibody (bs-19430R-Gold)
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說 明 書: 100ul(10nm  15nm  35nm
100ul/2980.00元
大包裝/詢價
產品編號 bs-19430R-Gold
英文名稱1 Rabbit Anti-PRRT2/Gold Conjugated antibody
中文名稱 膠體金標記的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.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul(10nm  15nm  35nm
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
交叉反應 Mouse,  (predicted: Human, Dog, Pig, Cow, Horse, )
產品應用 IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 35, 40 kDa
性    狀 Lyophilized or Liquid
濃    度 0.4mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human PRRT2
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300.
保存條件 Store at 2-8 oC for 3-6 months. Avoid repeated freeze/thaw cycles.
產品介紹 background:
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.

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



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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