CRB2
Description
The CRB2 gene provides instructions for making a protein called Crumbs homolog 2. This protein plays a crucial role in the development and function of photoreceptor cells, the light-sensitive cells in the retina of the eye. CRB2 is located at the tight junctions between photoreceptor cells, helping to maintain the integrity of the outer blood-retinal barrier. It also contributes to the proper organization and orientation of these cells, ensuring efficient light capture and signal transduction.
Associated Diseases
- Retinitis Pigmentosa (RP)
- Leber Congenital Amaurosis (LCA)
- Cone-Rod Dystrophy
- Macular Degeneration
- Other retinal degenerative diseases
Did you know?
Mutations in the CRB2 gene are associated with a wide range of retinal disorders, highlighting its essential role in maintaining retinal health.
