DALRD3
Description
The DALRD3 gene, located on chromosome 15, plays a crucial role in the development and function of the retina, the light-sensitive tissue at the back of the eye. It encodes a protein involved in the formation of photoreceptor cells, which are responsible for detecting light. Mutations in DALRD3 can lead to a range of retinal disorders, impacting vision and potentially causing blindness. Understanding DALRD3‘s function and its role in disease is essential for developing effective treatments and therapies.
Associated Diseases
- Retinitis pigmentosa (RP)
- Cone-rod dystrophy (CRD)
- Leber congenital amaurosis (LCA)
- Macular degeneration
Did you know?
DALRD3 mutations are linked to a rare form of RP that is characterized by early-onset night blindness and progressive vision loss.