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重组遗传性失明相关蛋白AIPL1
本产品不向个人销售,仅用作科学研究,不用于任何人体实验及非科研性质的动物实验。

Recombinant AIPL1
Recombinant aryl hydrocarbon receptor interacting protein like 1 protein
基因名:

AIPL1


产品别名:

AIPL2; LCA4; AIPL1; aryl hydrocarbon receptor interacting protein like 1; aryl hydrocarbon receptor interacting protein like 1; aryl-hydrocarbon-interacting protein-like 1; 遗传性失明相关蛋白AIPL1;


背景信息:
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.
 
 
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