ALDH1A3

Description

The ALDH1A3 gene encodes the enzyme aldehyde dehydrogenase 1A3, a crucial player in the detoxification of aldehydes, particularly retinaldehyde. This enzyme is predominantly expressed in the retina, where it plays a vital role in the visual cycle. ALDH1A3 converts retinaldehyde to retinoic acid, a key signaling molecule essential for photoreceptor function and retinal development. Dysregulation of ALDH1A3 activity can lead to various ophthalmological disorders, underscoring its importance in maintaining healthy vision.

Associated Diseases

• Retinitis pigmentosa (RP)
• Stargardt disease
• Leber congenital amaurosis (LCA)
• Cone-rod dystrophy
• Sorsby fundus dystrophy

Did you know?

ALDH1A3 is a key enzyme in the visual cycle, a complex process involving light absorption by photoreceptor cells and subsequent signal transduction leading to vision.