Anti-C2orf39抗体The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximay 8% of the human genome.

产品编号 yb-15149R
英文名称 Anti-C2orf39抗体
中文名称 2号染色体开放阅读框39抗体
别    名 CC164_HUMAN; CCDC164; Coiled-coil domain-containing protein 164.
Anti-C2orf39抗体
说 明 书 0.2ml  
研究领域 细胞生物  免疫学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Cow, Horse, Sheep, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 87kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human C2orf39
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 癈 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癈. 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 癈.

PubMed PubMed
产品介绍 background:
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximay 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr鰉 syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial omeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf39 gene product has been provisionally designated C2orf39 pending further characterization.

Function:
Key component of the nexin-dynein regulatory complex(N-DRC), essential for N-DRC integrity. Required for the assemblyand regulation of specific classes of inner dynein arm motors. Mayalso function to restrict dynein-driven microtubule sliding, thusaiding in the generation of ciliary bending. 

Subcellular Location:
Cytoplasm, cytoskeleton, cilium axoneme (Bysimilarity).

DISEASE:
Note=Defects in CCDC164 are the cause of primary ciliarydyskinesia. A disorder characterized by abnormalities of motilecilia. Respiratory infections leading to chronic inflammation andbronchiectasis are recurrent, due to defects in the respiratorycilia; reduced fertility is often observed in male patients due toabnormalities of sperm tails. 

Similarity:
Belongs to the CCDC164 family. 

Database links:
UniProtKB/Swiss-Prot: Q96MC2.2

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