產品編號 yb-7958R
英文名稱 Anti-ALS2CR4抗體
中文名稱 肌萎縮側索硬化癥相關蛋白4抗體
別    名 ALS2CR4 protein, N terminus truncated; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; TM237_HUMAN.
Anti-ALS2CR4抗體
說 明 書 0.2ml  
研究領域 細胞生物  免疫學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Human, Mouse, Rat, Pig, Horse, Rabbit, Sheep, 
產品應用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 45kDa
細胞定位 細胞膜 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
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 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
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.

PubMed PubMed
產品介紹 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.