retinoid isomerohydrolase RPE65

Normal function

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.

Conditions referring to this gene or chromosome

• Leber congenital amaurosis

• Rétinite pigmentaire

• Fundus albipunctatus

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