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 RPE layer is essential for capturing light and vision.
The RPE65 protein is involved in a multi-step process called the visual cycle (also called the retinoid or vitamin A cycle), which converts light entering the eye into electrical signals that are transmitted to the brain. When light hits photosensitive pigments in the retina, it changes a molecule called 11-cis retinal (a form of vitamin A) to another molecule called all-trans retinal. This conversion triggers a series of chemical reactions that create electrical signals.
The RPE65 protein is a key enzyme in this cycle as it converts all-trans retinal to 11-cis retinol. Other enzymes then produce 11-cis retinal, so that the visual cycle can begin again and capture light.
Other Names
all-trans-retinyl-palmitate hydrolase; BCO3; LCA2; mRPE65; p63; RBP-binding membrane protein; rd12; retinal pigment epithelium specific protein 65; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase; retinol isomerase; RP20; RPE65_HUMAN; sRPE65
Related Genetics Topics
- Leber congenital amaurosis — MedlinePlus Genetics
- Retinitis pigmentosa — MedlinePlus Genetics
- Fundus albipunctatus — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6121
- OMIM: 180069
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
