RBP3
Function
IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Involvement in disease
Retinitis pigmentosa 66
RP66
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase S41A family.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Interphotoreceptor matrix
- Interphotoreceptor matrix that permeates the space between the retina and the contiguous layer of pigment epithelium cells.
Alternative names
Retinol-binding protein 3, Interphotoreceptor retinoid-binding protein, Interstitial retinol-binding protein, IRBP, RBP3