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FITC標(biāo)記的肌萎縮側(cè)索硬化癥相關(guān)蛋白4抗體

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商鋪產(chǎn)品：9811條

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聯(lián)系人：馬經(jīng)理 （銷售專員）

產(chǎn)品簡介

FITC標(biāo)記的肌萎縮側(cè)索硬化癥相關(guān)蛋白4抗體產(chǎn)品介紹：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

詳細(xì)介紹

英文名稱Anti-ALS2CR4/FITC
中文名稱FITC標(biāo)記的肌萎縮側(cè)索硬化癥相關(guān)蛋白4抗體
別    名ALS2CR4 protein, N terminus truncated; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; TM237_HUMAN.
說 明 書100ul  
研究領(lǐng)域細(xì)胞生物  免疫學(xué)  
抗體來源Rabbit
克隆類型Polyclonal
交叉反應(yīng)Human, Mouse, Rat, Pig, Horse, Rabbit, Sheep, 
產(chǎn)品應(yīng)用IF=1:50-200  
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量45kDa
細(xì)胞定位細(xì)胞膜 
性    狀Lyophilized or Liquid
濃    度1mg/ml
免 疫 原KLH conjugated synthetic peptide derived from human ALS2CR4
亞    型IgG
純化方法affinity purified by Protein A
儲 存 液Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
保存條件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產(chǎn)品介紹background:
The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. 

Function:
Component of the transition zone in primary cilia. Required for ciliogenesis.

Subcellular Location:
Membrane; Multi-pass membrane protein (Potential). Cell projection, cilium. Note=Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L. 

DISEASE:
Defects in TMEM237 are the cause of Joubert syndrome type 14 (JBTS14) [MIM:614424]. An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable JBTS14 features include renal disease, abnormal eye movements, and postaxial polydactyly.

Similarity:
Belongs to the TMEM237 family. 

Database links:
UniProtKB/Swiss-Prot: Q96Q45.2

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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