Anti-AIPL1抗体The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 （AIPL1）,

产品编号 yb-12452R
英文名称 Anti-AIPL1抗体
中文名称 遗传性失明相关蛋白AIPL1抗体
别    名 A930007I01Rik; Aipl1; AIPL1_HUMAN; AIPL2; Aryl hydrocarbon interacting protein like 1; Aryl hydrocarbon receptor interacting protein like 1; Aryl-hydrocarbon-interacting protein-like 1; LCA4; MGC25485; OTTHUMP00000128207; OTTMUSP00000006382; RP23-401C17.1.
Anti-AIPL1抗体
说 明 书 0.2ml  
研究领域 细胞生物  神经生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Rabbit, 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 44kDa
细胞定位 细胞核 细胞浆 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human AIPL1
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 inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness.

Function:
May be important in protein trafficking and/or protein folding and stabilization.

Subunit:
Interacts with NUB1. 

Subcellular Location:
Cytoplasm. Nucleus.

Tissue Specificity:
Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.

DISEASE:
Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.

Similarity:
Contains 1 PPIase FKBP-type domain.
Contains 3 TPR repeats.

Database links:
UniProtKB/Swiss-Prot: Q9NZN9.2

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