产品名称：Anti-ALS2CR4/FITC抗体

Anti-ALS2CR4/FITC抗体

产品编号YB-7958R-FITC

英文名称Anti-ALS2CR4/FITC

中文名称FITC标记的肌萎缩侧索硬化症相关蛋白4抗体

别    名ALS2CR4 protein, N terminus truncated; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; TM237_HUMAN.

Anti-ALS2CR4/FITC抗体

说 明 书100ul  

研究领域细胞生物  **学  

抗体来源Rabbit

克隆类型Polyclonal

交叉反应Human, Mouse, Rat, Pig, Horse, Rabbit, Sheep,

产品应用IF=1:50-200  

not yet tested in other applications.

optimal dilutions/concentrations should be determined by the end user.

分 子 量45kDa

细胞定位细胞膜

性    状Lyophilized or Liquid

浓    度1mg/ml

免 疫 原KLH conjugated synthetic peptide derived from human ALS2CR4

亚    型IgG

纯化方法affinity purified by Protein A

储 存 液Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4

保存条件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.

Anti-ALS2CR4/FITC抗体

产品介绍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, Anti-ALS2CR4/FITC抗体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.

Anti-ALS2CR4/FITC抗体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.