RDH12

Description

The RDH12 gene provides instructions for making an enzyme called 11-cis retinol dehydrogenase. This enzyme is crucial for the visual cycle, a series of chemical reactions that allow us to see. It converts all-trans retinol, a form of vitamin A, into 11-cis retinol, a molecule essential for the function of rhodopsin, a light-sensitive pigment in the eye. Mutations in the RDH12 gene can disrupt this process, leading to various eye disorders.

Associated Diseases

• Retinitis Pigmentosa (RP)
• Congenital Stationary Night Blindness (CSNB)
• Leber Congenital Amaurosis (LCA)

Did you know?

The RDH12 gene is expressed primarily in the retina, the light-sensitive tissue at the back of the eye.