Retinal pigment epithelium-specific 65 kDa protein (also known as RPE65) is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. [5][6] RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans- retinyl esters to 11...

2024年12月25日 · RPE65 (Retinoid Isomerohydrolase RPE65) is a Protein Coding gene. Diseases associated with RPE65 include Retinitis Pigmentosa 20 and Leber Congenital Amaurosis 2. Among its related pathways are Visual phototransduction and …

2022年5月1日 · At the heart of this metabolic pathway is an enzyme known as retinal pigment epithelium 65 kDa protein (RPE65), which catalyzes an unusual, possibly biochemically unique, reaction consisting of a coupled all- trans -retinyl ester hydrolysis and alkene geometric isomerization to produce 11- cis -retinol.

视网膜色素上皮 (RPE)是由排列在视网膜最外层的一层规则的多边形细胞组成。 RPE的外侧连接布鲁赫膜和脉络膜，内侧连接光感受器细胞的外节。 外侧呈现出基底内折叠样，这增加了细胞表面积，促进物质交换。 位于布鲁赫膜最内层的半桥粒与基底膜紧密相连。 RPE细胞内部有延伸到光感受器外节 (POS)之间的微绒毛结构，参与了RPE的吞噬功能。 单层RPE与缝隙连接之间形成的紧密连接控制着物质的运动，同时与布鲁赫膜和脉络膜在视网膜外侧形成 脉络膜-血-视网膜屏障。 …

RPE65 is an isomerohydrolase expressed in retinal pigment epithelium. It is critical for the regeneration of the visual pigment necessary for both rod and cone-mediated vision. Mutations in human RPE65 cause Leber’s congenital amaurosis and other ...

The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye.

视网膜色素变性，又称 色素性视网膜炎 （Retinitis Pigmentosa， 以下统称RP）是一种遗传性的视网膜疾病，全球患病率大约为1：5000-1：3000。 RP的遗传模式包括 常染色体显性遗传， 常染色体隐性遗传， X连锁遗传， 双基因 和 线粒体模式。 如果视网膜色素变性的小孩父母的视力均为正常，那很有可能是父母双方都为致病基因的隐性携带者，小孩继承了父母两边的致病基因而发病，这种情况属于 隐性纯合突变。 RP的发病原因通常是由于一系列的基因突变或缺失导致的 …

At the heart of this metabolic pathway is an enzyme known as retinal pigment epithelium 65 kDa protein (RPE65), which catalyzes an unusual, possibly biochemically unique, reaction consisting of a coupled all- trans -retinyl ester hydrolysis and alkene geometric isomerization to produce 11- …

2022年5月21日 · 国家药监局药品审评中心官网显示，药监局已批准上海朗昇生物自主研发药物lx101注射液用于临床试验，治疗rpe65双等位基因突变相关的遗传性视网膜 ...

Rpe65特异性CRISPR-Cas9的全基因组脱靶分析 为了全局表征TS4 rd12 sgRNA 识别的潜在脱靶位点，研究人员使用rd12小鼠的基因组DNA 进行了Digenome-seq，这是全基因组的无偏脱检测方法。