ALDH1L1
Description
The ALDH1L1 gene encodes the enzyme retinaldehyde dehydrogenase 1, a crucial component of the visual cycle and retinoid metabolism. It catalyzes the conversion of retinaldehyde to retinoic acid, a vital signaling molecule involved in various biological processes, including cell growth, differentiation, and immunity. ALDH1L1 is predominantly expressed in the retina, where it plays a critical role in vision by recycling retinaldehyde. Mutations in this gene can lead to various ophthalmological disorders, impacting visual function and overall health.
Associated Diseases
- Retinitis pigmentosa (RP)
- Cone-rod dystrophy
- Leber congenital amaurosis (LCA)
- Sjogren-Larsson syndrome
- Cancer
Did you know?
ALDH1L1 is also expressed in other tissues, including the liver, brain, and skin, suggesting its involvement in diverse biological processes beyond vision.
