Anti-C2orf71抗体The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment.

产品编号 yb-15158R
英文名称 Anti-C2orf71抗体
中文名称 2号染色体开放阅读框71抗体
别    名 Chromosome 2 open reading frame 71; Uncharacterized protein C2orf71; CB071_HUMAN.
Anti-C2orf71抗体 
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  免疫学  神经生物学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Rat, Dog, Cow, 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 140kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human C2orf71
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 °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
产品介绍 background:
The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]

Function:
May play an important role in the development of normalvision.

Subcellular Location:
Cell projection, cilium, photoreceptor outersegment. 

Tissue Specificity:
Specifically expressed in retina. 

DISEASE:
Defects in C2orf71 are the cause of retinitis pigmentosatype 54 (RP54) [MIM:613428]. A retinal dystrophy belonging to thegroup of pigmentary retinopathies. RP is characterized by retinalpigment deposits visible on fundus examination and primary loss ofrod photoreceptor cells followed by secondary loss of conephotoreceptors. Patients typically have night vision blindness andloss of midperipheral visual field. As their condition progresses,they lose their far peripheral visual field and eventually centralvision as well.