Article
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
Nature genetics - 1 Dec 1998
Redmond T M, Yu S, Lee E, Bok D, Hamasaki D, Chen N, Goletz P, Ma J X, Crouch R K, Pfeifer K
Abstract excerpt
Mutation of RPE65 can cause severe blindness from birth or early childhood, and RPE65 protein is associated with retinal pigment epithelium (RPE) vitamin A metabolism. Here, we show that Rpe65-deficient mice exhibit changes in retinal physiology and biochemistry. Outer segment discs of rod photor...
Topics
- Animals
- Carrier Proteins
- Esters
- Eye Proteins
- Mice
- Mice, Knockout
- Microscopy, Electron
- Mutation
- Phenotype
- Proteins
- Retina
- Retinal Rod Photoreceptor Cells
- Rhodopsin
- Vision, Ocular
- Vitamin A
- cis-trans-Isomerases
