2022年5月1日 · The retinal pigment epithelium 65 kDa protein (RPE65) is a critical component of the vertebrate visual system, playing a non-redundant role in the visual cycle metabolic pathway that regenerates visual chromophore, 11- cis -retinal, for rod and cone visual pigments.

RPE65 catalyzes the conversion of all-trans-retinyl ester to 11-cis-retinol through a proposed S N 1 O-alkyl bond cleavage. RPE65's combination of an O-alkyl ester cleavage, geometric isomerization, and water addition is currently thought to be unique in biology.

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 forms of autosomal recessive retinitis pigmentosa which are associated with early-onset blindness.

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- …

2025年3月30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 Olfactory Signaling Pathway.

2022年9月26日 · Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ...

为了使用 CRISPR-Cas9技术 来治疗先天性黑蒙症，研究人员首先使用了来自rd12小鼠的 胚胎成纤维细胞 (MEFs)来筛选针对Rpe65外显子3的单导RNA (sgRNA)序列，并最终确定了一个优化的sgRNA序列TS4 sgRNA进一步研究，因为它可以在离提前终止密码子最近的位点上产生 双链断裂 ...

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.

The RPE65 protein is the source of isomerohydrolase activity (conversion of all-trans retinyl ester to 11-cis retinol) in the retinal pigment epithelium (summary by Moiseyev et al., 2005). The retinal pigment epithelium (RPE) is a monolayer simple epithelium apposed to the outer surface of the retinal photoreceptor cells.