STRA6
Description
The STRA6 gene, short for ‘stimulated by retinoic acid 6‘, plays a crucial role in vitamin A (retinol) metabolism, particularly in the eye. It encodes a protein that acts as a receptor for retinol, facilitating its uptake into cells. This process is essential for the production of retinal, a molecule vital for light detection in the retina. STRA6 is primarily expressed in the retinal pigment epithelium (RPE), a layer of cells supporting photoreceptor function, and its dysfunction can lead to severe vision problems.
Associated Diseases
- Retinitis pigmentosa (RP): A group of inherited eye disorders characterized by progressive retinal degeneration, leading to night blindness and eventual loss of peripheral and central vision.
- Fundus albipunctatus: A rare, autosomal recessive disorder characterized by white spots in the retina, leading to vision impairment and nystagmus (involuntary eye movements).
- Lebers congenital amaurosis (LCA): A severe, inherited retinal dystrophy causing profound vision loss from birth or early childhood.
Did you know?
STRA6 is essential for the visual cycle, a process where retinal is regenerated from all-trans-retinal, allowing the eye to continuously detect light.
